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

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 frequent...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9029724/
https://www.ncbi.nlm.nih.gov/pubmed/35456481
http://dx.doi.org/10.3390/genes13040675

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