Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.M1delFs
Back to variants list

CFTR

NM_000492.4:p.M1delFs

Associated Papers

Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.

Sharma N et al.

Human Mutation, 2014

Cystic fibrosis and survival to 40 years: a study of cystic fibrosis transmembrane conductance regulator function.

Simmonds NJ et al.

The European Respiratory Journal, 2011

Cystic fibrosis.

Cuppens H et al.

Methods in Molecular Medicine, 2004

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."