Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.E132_V133Splc
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FLCN

NM_144997.7:p.E132_V133Splc

Associated Papers

Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report.

Furuya M et al.

Bmc Medical Genomics, 2018

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

Hou X et al.

Bmc Medical Genetics, 2018

Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.

Liu Y et al.

Orphanet Journal of Rare Diseases, 2017

Birt-Hogg-Dube syndrome: clinicopathological features of the lung.

Furuya M et al.

Journal of Clinical Pathology, 2013

Unique mutation, accelerated mTOR signaling and angiogenesis in the pulmonary cysts of Birt-Hogg-Dubé syndrome.

Nishii T et al.

Pathology International, 2013

[Birt-Hogg-Dubé syndrome].

Koga S et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2010

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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."