International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.
Ben Aim L, Maher ER, Cascon A, Barlier A, Giraud S, Ercolino T, Pigny P, Clifton-Bligh RJ, Mirebeau-Prunier D, Mohamed A, Favier J, Gimenez-Roqueplo AP, Schiavi F, Toledo RA, Dahia PL, Robledo M, Bayley JP, Burnichon N.
Ben Aim L, et al.
J Med Genet. 2022 Aug;59(8):785-792. doi: 10.1136/jmedgenet-2020-107652. Epub 2021 Aug 27.
J Med Genet. 2022.
PMID: 34452955
Free PMC article.
Using multiple criteria, each variant was first classified according to a 5-tier grouping based on American College of Medical Genetics and NGSnPPGL standardised recommendations and was then manually reviewed by a panel of experts in the field. RESULTS: This multistep proc …
Using multiple criteria, each variant was first classified according to a 5-tier grouping based on American College of Medical Genetics and …