Publications:

International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.

Journal Of Medical Genetics

Ben Aim, Laurene L; Maher, Eamonn R ER; Cascon, Alberto A; Barlier, Anne A; Giraud, Sophie S; Ercolino, Tonino T; Pigny, Pascal P; Clifton-Bligh, Roderick J RJ; Mirebeau-Prunier, Delphine D; Mohamed, Amira A; Favier, Judith J; Gimenez-Roqueplo, Anne-Paule AP; Schiavi, Francesca F; Toledo, Rodrigo A RA; Dahia, Patricia L PL; Robledo, Mercedes M; Bayley, Jean Pierre JP; Burnichon, Nelly N

Publication Date: 2022-08

Variant appearance in text: SDHB: Ala52fs*25

PubMed Link: 34452955

Variant Present in the following documents:

• jmedgenet-2020-107652supp002.xlsx, sheet 1

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The emerging role and targetability of the TCA cycle in cancer metabolism.

Protein & Cell

Anderson, Nicole M NM; Mucka, Patrick P; Kern, Joseph G JG; Feng, Hui H

Publication Date: 2018-02

Variant appearance in text: SDHB: 155delC

PubMed Link: 28748451

Variant Present in the following documents:

• Main text
• 13238_2017_Article_451.pdf

View BVdb publication page