Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.D95N
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GPR50

NM_004224.3:p.D95N

Associated Papers

Crystal structure of the periplasmic disulfide-bond isomerase DsbC from Salmonella enterica serovar Typhimurium and the mechanistic implications.

Jiao L et al.

Journal of Structural Biology, 2013

A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family.

Liu M et al.

Journal of Human Genetics, 2006

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.

Kelley PM et al.

American Journal of Human Genetics, 1998

Mutagenesis of human acetylcholinesterase. Identification of residues involved in catalytic activity and in polypeptide folding.

Shafferman A et al.

The Journal of Biological Chemistry, 1992

A comment on the analysis of families with prelinqual deafness.

Kimberling S et al.

American Journal of Human Genetics, 1989

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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."