ABCG8 c.47C>T ;(p.T16I)

Variant ID: 2-44066239-C-T

NM_022437.2(ABCG8):c.47C>T;(p.T16I)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding.

Jimd Reports
Tada, Hayato H; Kawashiri, Masa-Aki MA; Takata, Mutsuko M; Matsunami, Kunihiro K; Imamura, Atsushi A; Matsuyama, Misayo M; Sawada, Hirotake H; Nunoi, Hiroyuki H; Konno, Tetsuo T; Hayashi, Kenshi K; Nohara, Atsushi A; Inazu, Akihiro A; Kobayashi, Junji J; Mabuchi, Hiroshi H; Yamagishi, Masakazu M
Publication Date: 2015

Variant appearance in text: ABCG8: 47C>T
PubMed Link: 25665839
Variant Present in the following documents:
  • Main text
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