Varaico: Literature-Extracted Genetic Variants

Gene:PCDH15
Variant:p.R991*
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PCDH15

NM_001384140.1:p.R991*

Associated Papers

Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.

Riahi Z et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

41359850 (PubMed )
Supplement: pnas.2518445122.sapp.pdf

Epidemiological and genetic insights of Usher syndrome in Turkish population: A cross-sectional preliminary study from University of Health Sciences, Turkey.

Alkan AA et al.

The Journal of International Medical Research, 2025

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

PCDH15 Dual-AAV Gene Therapy for Deafness and Blindness in Usher Syndrome Type 1F.

Ivanchenko MV et al.

Biorxiv : the Preprint Server for Biology, 2023

Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.

Kaseniit KE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32595206 (PubMed )
Supplement: 41436_2020_869_MOESM2_ESM.xlsx › PCDH15
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