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

BACKGROUND: Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC), caused by heterozygous germline pathogenic variants in the FH, confers an increased risk for cutaneous and uterine leiomyomas and renal cancer. METHODS: About 13,722 advanced cancer patients, including 560 with renal cell...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Genet Genomic Med
Egile Nagusiak: Breen, Kelsey E., Carlo, Maria I., Kemel, Yelena, Maio, Anna, Chen, Ying‐Bei, Zhang, Liying, Ceyhan‐Birsoy, Ozge, Mandelker, Diana
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2020
Gaiak:
Clinical Reports
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7434728/
https://ncbi.nlm.nih.gov/pubmed/32463173
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1293
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