Varaico: Literature-Extracted Genetic Variants

Gene:HEXD
Variant:p.V192L
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HEXD

NM_001330542.2:p.V192L

Associated Papers

In silico analysis of the effects of disease-associated mutations of β-hexosaminidase A in Tay-Sachs disease.

Ihsan Fazal M et al.

Journal of Genetics, 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."