Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.W260*
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FLCN

NM_144997.7:p.W260*

Associated Papers

A novel FLCN mutation in family members diagnosed with primary spontaneous pneumothorax.

Genc Yavuz B et al.

Molecular Genetics & Genomic Medicine, 2019

Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene.

Hou X et al.

Bmc Medical Genetics, 2018

Kidney cancer characteristics and genotype-phenotype-correlations in Birt-Hogg-Dubé syndrome.

Sattler EC et al.

Plos One, 2018

Syndrome of Birt-Hogg-Dubé, a histopathological pitfall with similarities to tuberous sclerosis: a report of three cases.

Spring P et al.

The American Journal of Dermatopathology, 2013

Late onset of skin manifestations in Birt-Hogg-Dubé syndrome with FLCN mutation p.W260X.

Sattler EC et al.

Acta Dermato-venereologica, 2012

Novel mutations in the folliculin gene associated with spontaneous pneumothorax.

Fröhlich BA et al.

The European Respiratory Journal, 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."