Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.A456P
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PKLR

NM_000298.6:p.A456P

Associated Papers

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

Hruska KS et al.

Human Mutation, 2008

Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation.

Ida H et al.

Human Genetics, 0

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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."