PAH c.1031G>A ;(p.G344D)

Variant ID: 12-103238148-C-T

NM_000277.1(PAH):c.1031G>A;(p.G344D)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Characterization of the Genomic and Immunologic Diversity of Malignant Brain Tumors through Multisector Analysis.

Cancer Discovery
Schaettler, Maximilian O MO; Richters, Megan M MM; Wang, Anthony Z AZ; Skidmore, Zachary L ZL; Fisk, Bryan B; Miller, Katherine E KE; Vickery, Tammi L TL; Kim, Albert H AH; Chicoine, Michael R MR; Osbun, Joshua W JW; Leuthardt, Eric C EC; Dowling, Joshua L JL; Zipfel, Gregory J GJ; Dacey, Ralph G RG; Lu, Hsiang-Chih HC; Johanns, Tanner M TM; Griffith, Obi L OL; Mardis, Elaine R ER; Griffith, Malachi M; Dunn, Gavin P GP
Publication Date: 2022-01

Variant appearance in text: PAH: 1031G>A
PubMed Link: 34610950
Variant Present in the following documents:
  • cd-21-0291_supplementary_table_1_suppst1.xlsx, sheet 77
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: 1031G>A; Gly344Asp
PubMed Link: 29316886
Variant Present in the following documents:
  • 12881_2017_Article_516.pdf
View BVdb publication page



Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.

Scientific Reports
Li, Nana N; Jia, Haitao H; Liu, Zhen Z; Tao, Jing J; Chen, Song S; Li, Xiaohong X; Deng, Ying Y; Jin, Xi X; Song, Jiaping J; Zhang, Liangtao L; Liang, Yu Y; Wang, Wei W; Zhu, Jun J
Publication Date: 2015-10-27

Variant appearance in text: PAH: G344D
PubMed Link: 26503515
Variant Present in the following documents:
  • Main text
View BVdb publication page



Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.

Pediatric Research
Tao, Jing J; Li, Nana N; Jia, Haitao H; Liu, Zhen Z; Li, Xiaohong X; Song, Jiaping J; Deng, Ying Y; Jin, Xi X; Zhu, Jun J
Publication Date: 2015-12

Variant appearance in text: PAH: 1031G>A; G344D
PubMed Link: 26322415
Variant Present in the following documents:
  • pr2015167a.pdf
View BVdb publication page



Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria.

Experimental & Molecular Medicine
Lee, Yong Wha YW; Lee, Dong Hwan DH; Kim, Nam Doo ND; Lee, Seung Tae ST; Ahn, Jee Young JY; Choi, Tae Youn TY; Lee, You Kyoung YK; Kim, Sun Hee SH; Kim, Jong Won JW; Ki, Chang Seok CS
Publication Date: 2008-10-31

Variant appearance in text: PAH: 1031G>A; Gly344Asp
PubMed Link: 18985011
Variant Present in the following documents:
  • Main text
View BVdb publication page