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.




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