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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HGSNAT

Variant:p.*636W

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HGSNAT

NM_152419.3:p.*636W

hg38:chr8:43199569 A>G

Associated Papers

Nonsyndromic retinitis pigmentosa caused by two novel variants in the HGSNAT gene in a Chinese family.

Long Y et al.

Ophthalmic Genetics, 2020

32347150 (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."