Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.A412_K413delFs
Back to variants list

CFTR

NM_000492.4:p.A412_K413delFs

Associated Papers

Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.

Pereira SV et al.

Scientific Reports, 2019

Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits.

Vecchio-Pagán B et al.

Human Genome Variation, 2016

27917292 (PubMed )
Supplement: hgv201638-s6.xls › Sup_2
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."