PAH c.591G>C ;(p.L197F)

Variant ID: 12-103249029-C-G

NM_000277.1(PAH):c.591G>C;(p.L197F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: PAH: 591G>C
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
View BVdb publication page



Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.

Jimd Reports
Carducci, Carla C; Amayreh, Wajdi W; Ababneh, Haneen H; Mahasneh, Amjad A; Al Rababah, Buthaina B; Al Qaqa, Kefah K; Al Aqeel, Momen M; Artiola, Cristiana C; Tolve, Manuela M; D'Amici, Sirio S; Shen, Nan N; Yu, Yongguo Y; Hillert, Alicia A; Himmelreich, Nastassja N; Okun, Jürgen G JG; Hoffmann, Georg F GF; Blau, Nenad N
Publication Date: 2020-09

Variant appearance in text: PAH: Leu197Phe
PubMed Link: 32905092
Variant Present in the following documents:
  • Main text
  • JMD2-55-59.pdf
View BVdb publication page