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PAH c.689T>C ;(p.V230A)
Variant ID: 12-103248931-A-G
NM_000277.1(
PAH
):c.689T>C;(p.V230A)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR combined with fluorescent probe technology.
Bioscience Reports
Qiang, Rong R; Wang, Lin L; He, JinHua J; Xu, Wei Jie WJ; Li, Wei W; Cai, Na N; Wang, Xiao Bin XB; Zhang, RuiXue R; Zhang, Li Ping LP; Ma, Xiao Ping XP; Wei, Chen C; Song, ChengRong C; Yu, WenWen W; Wang, Xiang X; Li, Xu X
Publication Date: 2021-02-26
Variant appearance in text: PAH: 689T>C; V230A
PubMed Link:
33564846
Variant Present in the following documents:
Main text
bsr-41-bsr20201660.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: 689T>C
PubMed Link:
29316886
Variant Present in the following documents:
12881_2017_Article_516.pdf
View BVdb publication page
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Bmc Medical Genomics
Gal, Moran M; Khermesh, Khen K; Barak, Michal M; Lin, Min M; Lahat, Hadas H; Reznik Wolf, Haike H; Lin, Michael M; Pras, Elon E; Levanon, Erez Y EY
Publication Date: 2016-05-13
Variant appearance in text: PAH: V230A
PubMed Link:
27175728
Variant Present in the following documents:
12920_2016_184_MOESM1_ESM.xls, sheet 1
View BVdb publication page