Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.P122S
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PRH1

NM_001393989.1:p.P122S

Associated Papers

Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses.

Cormand B et al.

American Journal of Medical Genetics, 1997

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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."