Varaico: Literature-Extracted Genetic Variants

Gene:PCDH15
Variant:p.L20_F21delFs
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PCDH15

NM_001384140.1:p.L20_F21delFs

Associated Papers

Outcomes of cochlear implants in patients with PCDH15 mutations: a clinical study.

Bi Q et al.

Frontiers in Genetics, 2025

Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa.

Chen N et al.

Bmc Ophthalmology, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."