Varaico: Literature-Extracted Genetic Variants

Gene:GAPDH
Variant:p.M1K
Back to variants list

GAPDH

NM_002046.7:p.M1K

Associated Papers

A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.

Chia PH et al.

Elife, 2018

Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula.

Mangas M et al.

Clinical Genetics, 2008

Ancient and recent duplications of the rainbow trout Wilms' tumor gene.

Brunelli JP et al.

Genome, 2001

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."