PC c.562G>C ;(p.G188R)

Variant ID: 11-66638594-C-G

NM_001040716.1(PC):c.562G>C;(p.G188R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia.

Jhep Reports : Innovation In Hepatology
Haring, Martijn P D MPD; Peeks, Fabian F; Oosterveer, Maaike H MH; Brouwers, Martijn C G J MCGJ; Hollak, Carla E M CEM; Janssen, Mirian C H MCH; Langendonk, Janneke G JG; Rennings, Alexander J M AJM; Wagenmakers, Margreet A E M MAEM; Verkade, Henkjan J HJ; Derks, Terry G J TGJ; de Meijer, Vincent E VE
Publication Date: 2022-08

Variant appearance in text: PC: Gly188Arg
PubMed Link: 35811762
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Is serum biotinidase enzyme activity a potential marker of perturbed glucose and lipid metabolism?

Jimd Reports
Forny, Patrick P; Burda, Patricie P; Bode, Peter P; Rohrbach, Marianne M
Publication Date: 2021-01

Variant appearance in text: PC: 562G>C; Gly188Arg
PubMed Link: 33473341
Variant Present in the following documents:
  • Main text
  • JMD2-57-58.pdf
View BVdb publication page



Proviral Features of Human T Cell Leukemia Virus Type 1 in Carriers with Indeterminate Western Blot Analysis Results.

Journal Of Clinical Microbiology
Kuramitsu, Madoka M; Sekizuka, Tsuyoshi T; Yamochi, Tadanori T; Firouzi, Sanaz S; Sato, Tomoo T; Umeki, Kazumi K; Sasaki, Daisuke D; Hasegawa, Hiroo H; Kubota, Ryuji R; Sobata, Rieko R; Matsumoto, Chieko C; Kaneko, Noriaki N; Momose, Haruka H; Araki, Kumiko K; Saito, Masumichi M; Nosaka, Kisato K; Utsunomiya, Atae A; Koh, Ki-Ryang KR; Ogata, Masao M; Uchimaru, Kaoru K; Iwanaga, Masako M; Sagara, Yasuko Y; Yamano, Yoshihisa Y; Okayama, Akihiko A; Miura, Kiyonori K; Satake, Masahiro M; Saito, Shigeru S; Itabashi, Kazuo K; Yamaguchi, Kazunari K; Kuroda, Makoto M; Watanabe, Toshiki T; Okuma, Kazu K; Hamaguchi, Isao I
Publication Date: 2017-09

Variant appearance in text: PC: G188R
PubMed Link: 28701419
Variant Present in the following documents:
  • Main text
View BVdb publication page