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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHST9

Variant:p.L431V

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CHST9

NM_031422.6:p.L431V

hg38:chr18:26916300 A>C

Associated Papers

Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy.

Aldave AJ et al.

American Journal of Ophthalmology, 2004

15013869 (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."