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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HEXA

Variant:p.W485*

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HEXA

NM_000520.6:p.W485*

hg38:chr15:72345517 C>T

Associated Papers

Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

Sheth J et al.

Jimd Reports, 2014

23852624 (PubMed )

Molecular study of lysosomal storage disorders in India.

Sheth J

Molecular Cytogenetics, 2014

24940364 (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."