Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.V317del1
Back to variants list

CFTR

NM_000492.4:p.V317del1

Associated Papers

A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR.

Wedenoja S et al.

Scientific Reports, 2017

Genetic Disorders of Membrane Transport III. Congenital chloride diarrhea.

Kere J et al.

The American Journal of Physiology, 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."