Varaico: Literature-Extracted Genetic Variants

Gene:NUF2
Variant:p.S171C
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NUF2

NM_145697.3:p.S171C

Associated Papers

Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome.

Breen KE et al.

Molecular Genetics & Genomic Medicine, 2020

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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."