Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.G95Splc
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PKLR

NM_000298.6:p.G95Splc

Associated Papers

Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease.

Lau EK et al.

Human Genetics, 1999

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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."