17q12, explained for kidsdeletion syndrome · static snapshot
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Something new reported What scientists are working on 1 supporting source confidence 97% novelty 90%

Someone reported something new: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…

A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with neurodevelopme”

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How this was derived

Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pmc.

Generated 2026-11-13, last changed yesterday. Dedup key expansion:02f629. The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.

Evidence (1 quote)

Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder peer_reviewed · published 2025-01-01 · live page
Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with neurodevelopmental disorder, and to investigate the genotype-phenotype characteristics associated with SMARCC2 var

Supporting documents (1)

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Identification and functional analysis of a novel SMARCC2 splicing ... pmc 2025-01-01 yesterday 1.00