Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.Y374S
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SGSH

NM_000199.5:p.Y374S

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

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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."