Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A2
Variant:p.L789delFs
Back to variants list

ATP6V0A2

NM_012463.4:p.L789delFs

Associated Papers

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

Hadj-Rabia S et al.

Orphanet Journal of Rare Diseases, 2013

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."