17q12, explained for kidsdeletion syndrome · static snapshot
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What it can look like auto-generated from the corpus

What it can look like: what the saved stories say

Written by the computer from 62 findings in 433 stories.

More in What it can look like

This page is put together automatically from what the saved stories say about what it can look like. It is a starting point for reading, not medical advice - open the stories to see what they really say.

_This page was written by the computer from 62 findings about “What it can look like”. It rewrites itself every time it reads the stories again, and every claim links back to where it came from._

  • Someone reported something new: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del… - A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
  • Someone reported something new: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique… - A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic syncytial giant cells, which was observed only in one additional case of paediatric cholestatic liver disease of unknown origin.”
  • Someone reported something new: We reported for the first time three patients with cardiac and great artery malformations… - A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
  • Someone reported something new: However, there were many highly significant genes showing novel isoforms in our data that were not previously … - A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
  • Someone reported something new: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination… - A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
  • Someone reported something new: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 … - A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1 genes affect the development of the female reproductive system.”
  • Someone reported something new: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys… - A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
  • Someone reported something new: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses… - A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
  • Someone reported something new: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal… - A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
  • Someone reported something new: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge… - A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
  • Someone reported something new: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se… - A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
  • Someone reported something new: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a… - A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
  • Someone reported something new: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1… - A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
  • Someone reported something new: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri… - A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and rs11658063 on 17q12).”

The kinds of things we found

  • Something new reported: 50
  • Gene + body-part link: 7
  • A number from a study: 5

What the newest stories say

Someone reported something new: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”

“In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
found in 1 stories · we are 97% sure · updated 2026-11-14 · read it

Someone reported something new: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic syncytial giant cells, which was observed only in one additional case of paediatric cholestatic liver disease of unknown origin.”

“Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic syncytial giant cells, which was observed only in one additional case of paediatric…”
found in 1 stories · we are 97% sure · updated 2026-11-14 · read it

Someone reported something new: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”

“We reported for the first time three patients with cardiac and great artery malformations.”
found in 1 stories · we are 97% sure · updated 2026-11-14 · read it

Someone reported something new: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”

“However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
found in 1 stories · we are 97% sure · updated 2026-11-14 · read it

Someone reported something new: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”

“For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
found in 1 stories · we are 97% sure · updated 2026-11-14 · read it

Someone reported something new: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1 genes affect the development of the female reproductive system.”

“(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1 genes affect the development of the female reproductive system.”
found in 1 stories · we are 97% sure · updated 2026-11-14 · read it

This entry is version 16. The analytical engine only appends the clearly-labelled “Latest evidence” section; the text above is curated and is not rewritten by the machine. Confidence 97% · last updated 2026-11-14 16:44