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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:USH2A

Variant:p.I653N

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USH2A

NM_206933.4:p.I653N

hg38:chr1:216289293 A>T

Associated Papers

RNA variant assessment using transactivation and transdifferentiation.

Nicolas-Martinez EC et al.

American Journal of Human Genetics, 2024

39084224 (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."