Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.L418delFs
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FLCN

NM_144997.7:p.L418delFs

Associated Papers

Renal Neoplasia in Birt-Hogg-Dubé Syndrome: Integrated Histopathologic, Bulk, and Single-cell Transcriptomic Analysis.

Gupta S et al.

European Urology, 2025

Germline genomic profiling of patients with early-onset colorectal cancer.

Mauri G et al.

Esmo Gastrointestinal Oncology, 2025

Clinically Sporadic Folliculin -mutated Renal Epithelial Neoplasms Represent a Mixture of True Somatic Folliculin -mutated and Occult Birt-Hogg-Dubé Syndrome-associated Cases : Morphologic and Molecular Overlap With TSC/MTOR -mutated Eosinophilic Renal Neoplasms and MiT Family Translocation Renal Cell Carcinoma.

Argani P et al.

The American Journal of Surgical Pathology, 2025

A novel variant in the FLCN gene in a Chinese family with Birt-Hogg-Dubé syndrome.

Miao H et al.

Molecular Genetics & Genomic Medicine, 2024

FLCN-Driven Functional Adrenal Cortical Carcinoma with High Mitotic Tumor Grade: Extending the Endocrine Manifestations of Birt-Hogg-Dubé Syndrome.

Hofstedter R et al.

Endocrine Pathology, 2023

Hydropneumothorax as a Presentation of Birt-Hogg-Dubé Syndrome.

Dhaliwal A et al.

Cureus, 2023

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

Hou X et al.

Bmc Medical Genetics, 2018

An oncocytic adrenal tumour in a patient with Birt-Hogg-Dubé syndrome.

Raymond VM et al.

Clinical Endocrinology, 2014

A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.

Lim DH et al.

Human Mutation, 2010

The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.

Wei MH et al.

Human Mutation, 2009

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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."