PAH c.509+2498T>C

Variant ID: 12-103257876-A-G

NM_000277.1(PAH):c.509+2498T>C

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs1498694
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population.

Communications Biology
Koshiba, Seizo S; Motoike, Ikuko N IN; Saigusa, Daisuke D; Inoue, Jin J; Aoki, Yuichi Y; Tadaka, Shu S; Shirota, Matsuyuki M; Katsuoka, Fumiki F; Tamiya, Gen G; Minegishi, Naoko N; Fuse, Nobuo N; Kinoshita, Kengo K; Yamamoto, Masayuki M
Publication Date: 2020-11-11

Variant appearance in text: rs1498694
PubMed Link: 33177615
Variant Present in the following documents:
  • 42003_2020_1383_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page