PAH c.280A>G ;(p.I94V)

Variant ID: 12-103288585-T-C

NM_000277.1(PAH):c.280A>G;(p.I94V)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics
Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2023

Variant appearance in text: PAH: 280A>G; Ile94Val
PubMed Link: 36923788
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.

Scientific Reports
Chen, Ting T; Xu, Weize W; Wu, Dingwen D; Han, Jiamin J; Zhu, Ling L; Tong, Fan F; Yang, Rulai R; Zhao, Zhengyan Z; Jiang, Pingping P; Shu, Qiang Q
Publication Date: 2018-11-20

Variant appearance in text: PAH: 280A>G; I94V
PubMed Link: 30459323
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_35373.pdf
View BVdb publication page



Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

Bmc Medical Genetics
Liu, Ning N; Huang, Qiuying Q; Li, Qingge Q; Zhao, Dehua D; Li, Xiaole X; Cui, Lixia L; Bai, Ying Y; Feng, Yin Y; Kong, Xiangdong X
Publication Date: 2018-01-09

Variant appearance in text: PAH: 280A>G; Ile94Val
PubMed Link: 29316886
Variant Present in the following documents:
  • 12881_2017_Article_516.pdf
View BVdb publication page



Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

Bmc Medical Genetics
Liu, Ning N; Huang, Qiuying Q; Li, Qingge Q; Zhao, Dehua D; Li, Xiaole X; Cui, Lixia L; Bai, Ying Y; Feng, Yin Y; Kong, Xiangdong X
Publication Date: 2017-10-05

Variant appearance in text: PAH: 280A>G; Ile94Val
PubMed Link: 28982351
Variant Present in the following documents:
  • Main text
  • 12881_2017_Article_467.pdf
View BVdb publication page