Publications:

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Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Frontiers In Endocrinology

Ma, Xiaosen X; Ling, Chao C; Zhao, Meng M; Wang, Fen F; Cui, Yunying Y; Wen, Jin J; Ji, Zhigang Z; Zhang, Caili C; Chen, Shi S; Tong, Anli A; Li, Yuxiu Y

Publication Date: 2022

Variant appearance in text: SDHB: 423+1G>C; rs398122805

PubMed Link: 35966080

Variant Present in the following documents:

• Table_1.xlsx, sheet 5

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Dutch founder SDHB exon 3 deletion in patients with pheochromocytoma-paraganglioma in South Africa.

Endocrine Connections

Gordon, Debra M DM; Beckers, Pablo P; Castermans, Emilie E; Neggers, Sebastian J C M M SJCMM; Rostomyan, Liliya L; Bours, Vincent V; Petrossians, Patrick P; Dideberg, Vinciane V; Beckers, Albert A; Daly, Adrian F AF

Publication Date: 2022-01-31

Variant appearance in text: SDHB: 423+1G>C

PubMed Link: 34939938

Variant Present in the following documents:

• Main text
• EC-21-0560.pdf

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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: 423+1G>C

PubMed Link: 34452955

Variant Present in the following documents:

• Main text
• jmedgenet-2020-107652.pdf
• jmedgenet-2020-107652supp002.xlsx, sheet 1

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Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study.

Frontiers In Endocrinology

Ma, Xiaosen X; Li, Ming M; Tong, Anli A; Wang, Fen F; Cui, Yunying Y; Zhang, Xuebin X; Zhang, Yushi Y; Chen, Shi S; Li, Yuxiu Y

Publication Date: 2020

Variant appearance in text: SDHB: 423+1G>C

PubMed Link: 33362715

Variant Present in the following documents:

• Main text
• fendo-11-574662.pdf

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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: 423+1G>C

PubMed Link: 28748451

Variant Present in the following documents:

• Main text
• 13238_2017_Article_451.pdf

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Succinate dehydrogenase-deficient gastrointestinal stromal tumors.

World Journal Of Gastroenterology

Wang, Ya-Mei YM; Gu, Meng-Li ML; Ji, Feng F

Publication Date: 2015-02-28

Variant appearance in text: SDHB: 423+1G>C

PubMed Link: 25741136

Variant Present in the following documents:

• Main text

View BVdb publication page

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