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