Varaico: Literature-Extracted Genetic Variants

Gene:USH1C
Variant:p.P519L
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USH1C

NM_153676.4:p.P519L

Associated Papers

Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Liu F et al.

Signal Transduction and Targeted Therapy, 2021

33563892 (PubMed )
Supplement: 41392_2020_412_MOESM20_ESM.xlsx › Supplementary_Table_S19

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.

O'Sullivan J et al.

Journal of Medical Genetics, 2012

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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."