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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHST6

Variant:p.R202fs

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CHST6

NM_021615.5:p.R202fs

hg38:chr16:75479223 G>GN

Associated Papers

A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy.

Zhang J et al.

Aging, 2019

30716718 (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."