Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.L4148P
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USH2A

NM_206933.4:p.L4148P

Associated Papers

Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss.

Yu D et al.

Computational and Structural Biotechnology Journal, 2020

Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands.

Zhang Q et al.

Scientific Reports, 2016

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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."