Varaico: Literature-Extracted Genetic Variants

Gene:MFGE8
Variant:p.V114V
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MFGE8

NM_005928.4:p.V114V

Associated Papers

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.

Stone DL et al.

Human Mutation, 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."