Varaico: Literature-Extracted Genetic Variants

Gene:PCDH15
Variant:p.T666Splc
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PCDH15

NM_001384140.1:p.T666Splc

Associated Papers

Diagnostic yield of whole exome sequencing with targeted gene analysis in prelingual sensorineural hearing loss in Thailand.

Damrongchietanon T et al.

Scientific Reports, 2025

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

Bi Q et al.

Frontiers in Genetics, 2025

Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia.

Sansović I et al.

Croatian Medical Journal, 2024

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

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

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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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."