Varaico: Literature-Extracted Genetic Variants

Gene:GAPDH
Variant:p.G109insFs
Back to variants list

GAPDH

NM_002046.7:p.G109insFs

Associated Papers

Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.

Hovnanian A et al.

American Journal of Human Genetics, 1997

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."