Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.N513Splc
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FLCN

NM_144997.7:p.N513Splc

Associated Papers

A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.

Lagerstedt-Robinson K et al.

Plos One, 2022

A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Ng CC et al.

Frontiers in Molecular Biosciences, 2022

36213130 (PubMed )
Supplement: DataSheet1.xlsx › Table_S3

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

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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."