Varaico: Literature-Extracted Genetic Variants

Gene:GAPDH
Variant:p.G2A
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GAPDH

NM_002046.7:p.G2A

Associated Papers

ABCA7 loss-of-function variants, expression, and neurologic disease risk.

Allen M et al.

Neurology. Genetics, 2017

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

Simpson MA et al.

American Journal of Human Genetics, 2007

Lack of p73 mutations and late occurrence of p73 allelic deletions in melanoma tissues and cell lines.

Schittek B et al.

International Journal of Cancer, 1999

Mutational analysis of pre-mRNA splicing in Saccharomyces cerevisiae using a sensitive new reporter gene, CUP1.

Lesser CF et al.

Genetics, 1993

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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."