PC c.520_521delinsCC ;(p.I174P)

Variant ID: 11-66638635-AT-GG

NM_001040716.1(PC):c.520_521delinsCC;(p.I174P)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Disturbed glucose and pyruvate metabolism in glaucoma with neuroprotection by pyruvate or rapamycin.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Harder, Jeffrey M JM; Guymer, Chelsea C; Wood, John P M JPM; Daskalaki, Evangelia E; Chidlow, Glyn G; Zhang, Chi C; Balasubramanian, Revathi R; Cardozo, Brynn H BH; Foxworth, Nicole E NE; Deering, Kelly E KE; Ouellette, Tionna B TB; Montgomery, Christa C; Wheelock, Craig E CE; Casson, Robert J RJ; Williams, Pete A PA; John, Simon W M SWM
Publication Date: 2020-12-29

Variant appearance in text: PC: I174P
PubMed Link: 33318177
Variant Present in the following documents:
  • pnas.202014213.pdf
View BVdb publication page