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Article

Atypical Biallelic Inheritance in "Dominant" Genes: Evidence From a Large-Scale Consanguineus Exome Cohort.

American journal of medical genetics. Part A - 1 Sept 2026

Taşdelen Elifcan, Tekbaş Umut Can, Kolkıran Abdulkerim, Çetinkaya Semra, Kılıç Mustafa, Sezer Abdullah

Abstract excerpt

Exome sequencing (ES) has improved Mendelian disease diagnosis, but in consanguineous populations, biallelic variants in typically dominant genes remain underrecognized. This study characterized their clinical and molecular features and explored pathway-level patterns of dual inheritance. Exome data from 1450 individuals analyzed between 2022 and 2024 were retrospectively reviewed. Biallelic variants were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42316479
DOI: 10.1002/ajmg.a.70231

Genes

ASH1L
FBN1
LRP5
SMAD6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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