Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K190N
Back to variants list

CFTR

NM_000492.4:p.K190N

Associated Papers

Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing.

Byrne JA et al.

Hepatology (baltimore, Md.), 2009

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."