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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:USH2A

Variant:p.D1895D

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USH2A

NM_206933.4:p.D1895D

hg38:chr1:216073188 G>A

Associated Papers

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.

Le Guédard-Méreuze S et al.

Human Mutation, 2010

20052763 (PubMed )

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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."