Varaico: Literature-Extracted Genetic Variants

Gene:PCDH15
Variant:p.E1125*
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PCDH15

NM_001142769.3:p.E1125*

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

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

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