PC c.325_326delinsGT ;(p.N109V)

Variant ID: 11-66638947-TT-AC

NM_001040716.1(PC):c.325_326delinsGT;(p.N109V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome.

Gene
Garlid, Anders O AO; Schaffer, Calvin T CT; Kim, Jaewoo J; Bhatt, Hirsh H; Guevara-Gonzalez, Vladimir V; Ping, Peipei P
Publication Date: 2020-02-05

Variant appearance in text: PC: N109V
PubMed Link: 31647997
Variant Present in the following documents:
  • Main text
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