Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.L214delFs
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FH

NM_000143.4:p.L214delFs

Associated Papers

A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.

Yagi Y et al.

Human Genome Variation, 2022

35034951 (PubMed )
Supplement: 41439_2021_180_MOESM1_ESM.pdf

Complete response of hereditary leiomyomatosis and renal cell cancer (HLRCC)-associated renal cell carcinoma to nivolumab and ipilimumab combination immunotherapy by: a case report.

Iribe Y et al.

Familial Cancer, 2021

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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."