Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.D175A
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HEXA

NM_000520.6:p.D175A

Associated Papers

Tay-Sachs disease: a novel mutation from India.

Khera D et al.

Bmj Case Reports, 2018

Molecular study of lysosomal storage disorders in India.

Sheth J

Molecular Cytogenetics, 2014

Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.

Sheth J et al.

Molecular Genetics and Metabolism Reports, 2014

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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."