MED16 c.1724G>T ;(p.S575I)

Variant ID: 19-875291-C-A

NM_005481.2(MED16):c.1724G>T;(p.S575I)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genetic correction and analysis of induced pluripotent stem cells from a patient with gyrate atrophy.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Howden, Sara E SE; Gore, Athurva A; Li, Zhe Z; Fung, Ho-Lim HL; Nisler, Benjamin S BS; Nie, Jeff J; Chen, Goukai G; McIntosh, Brian E BE; Gulbranson, Daniel R DR; Diol, Nicole R NR; Taapken, Seth M SM; Vereide, David T DT; Montgomery, Karen Dyer KD; Zhang, Kun K; Gamm, David M DM; Thomson, James A JA
Publication Date: 2011-04-19

Variant appearance in text: MED16: S575I
PubMed Link: 21464322
Variant Present in the following documents:
  • Main text
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