PAH c.969+606G>A

Variant ID: 12-103240067-C-T

NM_000277.1(PAH):c.969+606G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of methylation changes associated with positive and negative growth deviance in Gambian infants using a targeted methyl sequencing approach of genomic DNA.

Faseb Bioadvances
Quilter, Claire R CR; Harvey, Kerry M KM; Bauer, Julien J; Skinner, Benjamin M BM; Gomez, Maria M; Shrivastava, Manu M; Doel, Andrew M AM; Drammeh, Saikou S; Dunger, David B DB; Moore, Sophie E SE; Ong, Ken K KK; Prentice, Andrew M AM; Bernstein, Robin M RM; Sargent, Carole A CA; Affara, Nabeel A NA
Publication Date: 2021-04

Variant appearance in text: rs12425434
PubMed Link: 33842847
Variant Present in the following documents:
  • FBA2-3-205-s004.xlsx, sheet 3
View BVdb publication page



MicroRNA-374a, -4680, and -133b suppress cell proliferation through the regulation of genes associated with human cleft palate in cultured human palate cells.

Bmc Medical Genomics
Suzuki, Akiko A; Li, Aimin A; Gajera, Mona M; Abdallah, Nada N; Zhang, Musi M; Zhao, Zhongming Z; Iwata, Junichi J
Publication Date: 2019-07-01

Variant appearance in text: rs12425434
PubMed Link: 31262291
Variant Present in the following documents:
  • 12920_2019_546_MOESM3_ESM.xlsx, sheet 1
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: rs12425434
PubMed Link: 18937293
Variant Present in the following documents:
  • Main text
View BVdb publication page