Varaico: Literature-Extracted Genetic Variants

Gene:ATP6AP1
Variant:p.P174insFs
Back to variants list

ATP6AP1

NM_001183.6:p.P174insFs

Associated Papers

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.

Feliubadaló L et al.

Nature Genetics, 1999

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."