Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.A247V
Back to variants list

GPR50

NM_004224.3:p.A247V

Associated Papers

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

Witsch-Baumgartner M et al.

American Journal of Human Genetics, 2000

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."