Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.S469insFs
Back to variants list

FLCN

NM_144997.7:p.S469insFs

Associated Papers

A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.

Lim DH et al.

Human Mutation, 2010

The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.

Wei MH et al.

Human Mutation, 2009

BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

Toro JR et al.

Journal of Medical Genetics, 2008

A case of Birt-Hogg-Dubé syndrome.

Kim EH et al.

Journal of Korean Medical Science, 2008

High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors.

Vocke CD et al.

Journal of the National Cancer Institute, 2005

Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

Schmidt LS et al.

American Journal of Human Genetics, 2005

Detection of 1733insC mutations in an Asian family with Birt-Hogg-Dubé syndrome.

Kawasaki H et al.

The British Journal of Dermatology, 2005

Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome.

Nickerson ML et al.

Cancer Cell, 2002

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."