PAH c.1195_1196delinsTA ;(p.V399*)

Variant ID: 12-103237427-AC-TA

NM_000277.1(PAH):c.1195_1196delinsTA;(p.V399*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

Frontiers In Genetics
Wang, Ting T; Ma, Jun J; Zhang, Qin Q; Gao, Ang A; Wang, Qi Q; Li, Hong H; Xiang, Jingjing J; Wang, Benjing B
Publication Date: 2019

Variant appearance in text: PAH: V399X
PubMed Link: 31737040
Variant Present in the following documents:
  • Main text
  • fgene-10-01052.pdf
View BVdb publication page