Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.Y280C
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GPR50

NM_004224.3:p.Y280C

Associated Papers

Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada.

Waye JS et al.

Journal of Medical Genetics, 2002

Structural implication for receptor oligomerization from functional reconstitution studies of mutant V2 vasopressin receptors.

Schulz A et al.

The Journal of Biological Chemistry, 2000

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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."