Publications:

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: SDHC: 405+1G>A

PubMed Link: 28748451

Variant Present in the following documents:

• Main text
• 13238_2017_Article_451.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: SDHC: 405+1G>A

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.

European Journal Of Human Genetics : Ejhg

Boikos, Sosipatros A SA; Xekouki, Paraskevi P; Fumagalli, Elena E; Faucz, Fabio R FR; Raygada, Margarita M; Szarek, Eva E; Ball, Evan E; Kim, Su Young SY; Miettinen, Markku M; Helman, Lee J LJ; Carney, J Aidan JA; Pacak, Karel K; Stratakis, Constantine A CA

Publication Date: 2016-04

Variant appearance in text: SDHC: 405+1G>A

PubMed Link: 26173966

Variant Present in the following documents:

• Main text

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Carney triad, SDH-deficient tumors, and Sdhb+/- mice share abnormal mitochondria.

Endocrine-Related Cancer

Szarek, Eva E; Ball, Evan R ER; Imperiale, Alessio A; Tsokos, Maria M; Faucz, Fabio R FR; Giubellino, Alessio A; Moussallieh, François-Marie FM; Namer, Izzie-Jacques IJ; Abu-Asab, Mones S MS; Pacak, Karel K; Taïeb, David D; Carney, J Aidan JA; Stratakis, Constantine A CA

Publication Date: 2015-06

Variant appearance in text: SDHC: 405+1G>A

PubMed Link: 25808178

Variant Present in the following documents:

• Main text

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