Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.R168H
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FLCN

NM_144997.7:p.R168H

Associated Papers

Clonal relationship and directionality of progression of synchronous endometrial and ovarian carcinomas in patients with DNA mismatch repair-deficiency associated syndromes.

Moukarzel LA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021

33328602 (PubMed )
Supplement: NIHMS1642406-supplement-Supplementary_Material.pdf

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1

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

Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition.

Tedaldi G et al.

Cancers, 2019

31514334 (PubMed )
Supplement: cancers-11-01340-s001.pdf
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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."