Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.R247L
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CHST6

NM_021615.5:p.R247L

Associated Papers

CHST6 mutations identified in Iranian MCD patients and CHST6 mutations reported worldwide identify targets for gene editing approaches including the CRISPR/Cas system.

Safari I et al.

International Ophthalmology, 2020

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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."