Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.T242T
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FLCN

NM_144997.7:p.T242T

Associated Papers

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

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

Hou X et al.

Bmc Medical Genetics, 2018

Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.

Rossing M et al.

Journal of Human Genetics, 2017

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