Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R1325fs
Back to variants list

CFTR

NM_000492.4:p.R1325fs

Associated Papers

Compound heterozygous variants in CFTR with potentially reducing ATP-binding ability identified in Chinese infertile brothers with isolated congenital bilateral absence of vas deferens.

Shengjia S et al.

Molecular Genetics & Genomic Medicine, 2023

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."