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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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
View BVdb publication page