Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.V53L
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GPR50

NM_004224.3:p.V53L

Associated Papers

A single residue substitution accounts for the significant difference in thermostability between two isoforms of human cytosolic creatine kinase.

Liu H et al.

Scientific Reports, 2016

Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

Grønskov K et al.

European Journal of Human Genetics : Ejhg, 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."