PC c.1278_1279insTACT ;(p.V427Yfs*126)

Variant ID: 11-66631334-C-CAGTA

NM_001040716.1(PC):c.1278_1279insTACT;(p.V427Yfs*126)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.

The Journal Of Biological Chemistry
Maegawa, Gustavo H B GH; Tropak, Michael M; Buttner, Justin J; Stockley, Tracy T; Kok, Fernando F; Clarke, Joe T R JT; Mahuran, Don J DJ
Publication Date: 2007-03-23

Variant appearance in text: PC: 1278insTACT
PubMed Link: 17237499
Variant Present in the following documents:
  • Main text
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