Varaico: Literature-Extracted Genetic Variants

Gene:PCDH15
Variant:p.K1167_A1168Splc
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PCDH15

NM_001384140.1:p.K1167_A1168Splc

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

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Le Quesne Stabej P et al.

Journal of Medical Genetics, 2012

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