Frequency / statistic
Research frontier
1 supporting source
confidence 97%
novelty 60%
An additional genetic analysis was reported for 15 individuals with recurrent duplications and duplications larger than
A source reports “15 individuals” in the context of general: “An additional genetic analysis was reported for 15 individuals with recurrent duplications and duplications larger than 1 Mb: three had single nucleotide variants of uncertain clinical significance, one had a pathogenic 15q11.2 deletion, and the remaining 11 h”
How this was derived
Numbers are quoted verbatim from the source; check the source before quoting onward.
Generated 2026-11-13, last changed
yesterday. Dedup key freq:15 individuals.
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Evidence (1 quote)
Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1 Duplications
peer_reviewed
· published 2024-01-01
· live page
An additional genetic analysis was reported for 15 individuals with recurrent duplications and duplications larger than 1 Mb: three had single nucleotide variants of uncertain clinical significance, one had a pathogenic 15q11.2 deletion, and the remaining 11 had a negative ID next generation sequencing (ID NGS) panel or exome sequencing (ES).
Supporting documents (1)
| Article | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Delineation of the Genetic Architecture and Clinical Polymorphism o... | pmc | 2024-01-01 | yesterday | 1.00 |