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Article

Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.

Genes - 12 Apr 2022

Bender Chelsea, Woo Elizabeth Geena, Guan Bin, Ullah Ehsan, Feng Eric, Turriff Amy, Tumminia Santa J, Sieving Paul A, Cukras Catherine A, Hufnagel Robert B

Abstract excerpt

For disorders with X-linked inheritance, variants may be transmitted through multiple generations of carrier females before an affected male is ascertained. Pathogenic RS1 variants exclusively cause X-linked retinoschisis (XLRS). While RS1 is constrained to variation, recurrent variants are frequently observed in unrelated probands. Here, we investigate recurrent pathogenic variants to determine the relative...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 35456481
DOI: 10.3390/genes13040675
PMCID: PMC9029724

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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