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PAH c.730C>T ;(p.P244S)
Variant ID: 12-103246705-G-A
NM_000277.1(
PAH
):c.730C>T;(p.P244S)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China.
Molecular Biology Reports
Zhou, Jinfu J; Zeng, Yinglin Y; Qiu, Xiaolong X; Lin, Qingying Q; Chen, Weifeng W; Luo, Jinying J; Xu, Liangpu L
Publication Date: 2022-11
Variant appearance in text: PAH: Pro244Ser
PubMed Link:
36104584
Variant Present in the following documents:
Main text
11033_2022_Article_7579.pdf
View BVdb publication page
Investigation of parameters that affect the success rate of microarray-based allele-specific hybridization assays.
Plos One
Poulsen, Lena L; Søe, Martin Jensen MJ; Møller, Lisbeth Birk LB; Dufva, Martin M
Publication Date: 2011-03-22
Variant appearance in text: PAH: 730C>T; P244S
PubMed Link:
21445337
Variant Present in the following documents:
Main text
pone.0014777.pdf
View BVdb publication page