PAH c.67_68delinsGC ;(p.S23A)

Variant ID: 12-103306669-CT-GC

NM_000277.1(PAH):c.67_68delinsGC;(p.S23A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Single-cell RNA landscape of cell fate decision of renal proximal tubular epithelial cells and immune-microenvironment in kidney fibrosis.

Clinical And Translational Medicine
Zhu, Minyan M; Zhang, Zhenhua Z; Chen, Zhejun Z; Xu, Yao Y; Wu, Jiajin J; Che, Xiajing X; Ying, Liang L; Shao, Xinghua X; Tang, Lumin L; Zhou, Wenyan W; Zhang, Minfang M; Zhang, Ming M; Mou, Shan S
Publication Date: 2022-09

Variant appearance in text: PAH: S23a
PubMed Link: 36082701
Variant Present in the following documents:
  • CTM2-12-e1010.pdf
View BVdb publication page



Structure of full-length human phenylalanine hydroxylase in complex with tetrahydrobiopterin.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Flydal, Marte Innselset MI; Alcorlo-Pagés, Martín M; Johannessen, Fredrik Gullaksen FG; Martínez-Caballero, Siseth S; Skjærven, Lars L; Fernandez-Leiro, Rafael R; Martinez, Aurora A; Hermoso, Juan A JA
Publication Date: 2019-06-04

Variant appearance in text: PAH: S23A
PubMed Link: 31118288
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural and biochemical impact of C8-aryl-guanine adducts within the NarI recognition DNA sequence: influence of aryl ring size on targeted and semi-targeted mutagenicity.

Nucleic Acids Research
Sproviero, Michael M; Verwey, Anne M R AM; Rankin, Katherine M KM; Witham, Aaron A AA; Soldatov, Dmitriy V DV; Manderville, Richard A RA; Fekry, Mostafa I MI; Sturla, Shana J SJ; Sharma, Purshotam P; Wetmore, Stacey D SD
Publication Date: 2014-12-01

Variant appearance in text: PAH: S23a
PubMed Link: 25361967
Variant Present in the following documents:
  • Main text
  • gku1093.pdf
View BVdb publication page