Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.H8Q
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SDS

NM_006843.3:p.H8Q

Associated Papers

Hedgehog Acyltransferase Promotes Uptake of Palmitoyl-CoA across the Endoplasmic Reticulum Membrane.

Asciolla JJ et al.

Cell Reports, 2019

Heightened proteolysis of the von Willebrand factor subunit in patients with von Willebrand disease hemizygous or homozygous for the C2362F mutation.

Castaman G et al.

British Journal of Haematology, 2000

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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."