Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E402K
Back to variants list

CFTR

NM_000492.4:p.E402K

Associated Papers

A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation.

Lucarelli M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010

Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.

McGinniss MJ et al.

Human Genetics, 2005

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."