Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.W284C
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HGSNAT

NM_152419.3:p.W284C

Associated Papers

Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.

Zenteno JC et al.

Molecular Genetics & Genomic Medicine, 2020

31736247 (PubMed )
Supplement: MGG3-8-0-s001.pdf
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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."