Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.R218H
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FLCN

NM_144997.7:p.R218H

Associated Papers

Birt-Hogg-Dubé Syndrome: Diagnostic Journey of Three Cases from Skin to Gene.

Hasal E et al.

Annals of Dermatology, 2022

Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.

Ferrer-Avargues R et al.

Cancer Communications (london, England), 2021

33630411 (PubMed )
Supplement: CAC2-41-218-s001.xlsx › Table_S3_

Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation.

Clausen L et al.

Plos Genetics, 2020

33137092 (PubMed )
Supplement: pgen.1009187.s014.xlsx › Fig2F_S10AB
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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."