Varaico: Literature-Extracted Genetic Variants

Gene:PCDH15
Variant:p.P245S
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PCDH15

NM_001142773.2:p.P245S

Associated Papers

Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep-intronic variant in a Chinese child with profound hearing loss.

Yang Z et al.

Molecular Genetics & Genomic Medicine, 2023

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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."