PAH c.913-341A>G

Variant ID: 12-103241070-T-C

NM_000277.1(PAH):c.913-341A>G

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: PAH: 913-341A>G; rs1722387
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.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: rs1722387
PubMed Link: 23898865
Variant Present in the following documents:
  • Main text
  • 1744-9081-9-30.pdf
View BVdb publication page



Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Talkowski, Michael E ME; McClain, Lora L; Allen, Trina T; Bradford, L Dianne LD; Calkins, Monica M; Edwards, Neil N; Georgieva, Lyudmila L; Go, Rodney R; Gur, Ruben R; Gur, Raquel R; Kirov, George G; Chowdari, Kodavali K; Kwentus, Joseph J; Lyons, Paul P; Mansour, Hader H; McEvoy, Joseph J; O'Donovan, Michael C MC; O'Jile, Judith J; Owen, Michael J MJ; Santos, Alberto A; Savage, Robert R; Toncheva, Draga D; Vockley, Gerard G; Wood, Joel J; Devlin, Bernie B; Nimgaonkar, Vishwajit L VL
Publication Date: 2009-06-05

Variant appearance in text: rs1722387
PubMed Link: 18937293
Variant Present in the following documents:
  • Main text
View BVdb publication page