Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.L180insFs
Back to variants list

NF1

NM_001042492.3:p.L180insFs

Associated Papers

Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.

Ben-Shachar S et al.

European Journal of Human Genetics : Ejhg, 2013

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."