Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.E434K
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FLCN

NM_144997.7:p.E434K

Associated Papers

Percutaneous Thermal Ablation for Renal Tumors in Patients with Birt-Hogg-Dubé Syndrome.

Bodard S et al.

Cancers, 2022

Genetic insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations at FLCN.

Ray A et al.

Orphanet Journal of Rare Diseases, 2022

Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.

Benusiglio PR et al.

Orphanet Journal of Rare Diseases, 2014

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

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

Lim DH et al.

Human Mutation, 2010

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

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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."