Varaico: Literature-Extracted Genetic Variants

Gene:PDAP1
Variant:p.K157Q
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PDAP1

NM_014891.7:p.K157Q

Associated Papers

Use of fluorescent substrates for characterization of Gaucher disease mutations.

Ron I et al.

Blood Cells, Molecules & Diseases, 0

The enigma of the E326K mutation in acid β-glucocerebrosidase.

Horowitz M et al.

Molecular Genetics and Metabolism, 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."