Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.H429H
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FLCN

NM_144997.7:p.H429H

Associated Papers

Clinical and Genetic Comparison of Birt-Hogg-Dubé Syndrome (Hornstein-Knickenberg Syndrome) in Chinese: A Systemic Review of Reported Cases.

Zhou W et al.

International Journal of General Medicine, 2022

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

Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants.

Liu K et al.

Orphanet Journal of Rare Diseases, 2019

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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."