Varaico: Literature-Extracted Genetic Variants

Gene:PCDH15
Variant:p.P292R
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PCDH15

NM_001384140.1:p.P292R

Associated Papers

PCDH15 dual-AAV gene therapy for deafness and blindness in Usher syndrome type 1F models.

Ivanchenko MV et al.

The Journal of Clinical Investigation, 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

Experience of targeted Usher exome sequencing as a clinical test.

Besnard T et al.

Molecular Genetics & Genomic Medicine, 2014

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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."