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PAH c.442-378A>G
Variant ID: 12-103260819-T-C
NM_000277.1(
PAH
):c.442-378A>G
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: rs3817446
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
Possible association between common variants of the phenylalanine hydroxylase (PAH) gene and memory performance in healthy adults.
Behavioral And Brain Functions : Bbf
Teraishi, Toshiya T; Sasayama, Daimei D; Hori, Hiroaki H; Yamamoto, Noriko N; Fujii, Takashi T; Matsuo, Junko J; Nagashima, Anna A; Kinoshita, Yukiko Y; Hattori, Kotaro K; Ota, Miho M; Fujii, Sayaka S; Kunugi, Hiroshi H
Publication Date: 2013-07-30
Variant appearance in text: rs3817446
PubMed Link:
23898865
Variant Present in the following documents:
Main text
1744-9081-9-30.pdf
View BVdb publication page