Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.Y3715*
Back to variants list

USH2A

NM_206933.4:p.Y3715*

Associated Papers

Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush.

Fakin A et al.

International Journal of Molecular Sciences, 2021

34638692 (PubMed )
Supplement: ijms-22-10352-s001.zip › ijms-1381333-supplementary.pdf

Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer.

Wagner AH et al.

Nature Communications, 2018

30224629 (PubMed )
Supplement: 41467_2018_6162_MOESM13_ESM.xlsx › 10_-_All_SNVs_and_Indels

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

Bonnet C et al.

European Journal of Human Genetics : Ejhg, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."