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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DYNC2H1

Variant:p.N2341insFs

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DYNC2H1

NM_001377.3:p.N2341insFs

hg38:chr11:103187466 T>TA

Associated Papers

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.

Vig A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32753734 (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."