Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.L324P
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FH

NM_000143.4:p.L324P

Associated Papers

Morphologic Characteristics and Mutational Analysis of Fumarate Hydratase Deficient Kidney and Smooth Muscle Tumors.

McMurtry V et al.

American Journal of Clinical Pathology, 2023

Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers.

Muller M et al.

Clinical Genetics, 2017

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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."