Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.N336Y
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USH2A

NM_206933.4:p.N336Y

Associated Papers

Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.

Birtel J et al.

Plos One, 2018

30543658 (PubMed )
Supplement: pone.0207958.s002.docx

Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets.

Schulze K et al.

Nature Genetics, 2015

25822088 (PubMed )
Supplement: NIHMS62359-supplement-3.pdf
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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."