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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FH

Variant:p.A239_V240insFs

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FH

NM_000143.4:p.A239_V240insFs

hg38:chr1:241508624 A>ATGCT

Associated Papers

MR Spectroscopy for Detecting Fumarate Hydratase Deficiency in Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.

Wu G et al.

Radiology, 2022

35943337 (PubMed )

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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."