TGFB3 c.646+1031G>C

Variant ID: 14-76436438-C-G

NM_003239.2(TGFB3):c.646+1031G>C

This variant was identified in 4 publications

View GRCh38 version.




Publications:


POR polymorphisms are associated with 21 hydroxylase deficiency.

Journal Of Endocrinological Investigation
Pecori Giraldi, F F; Einaudi, S S; Sesta, A A; Verna, F F; Messina, M M; Manieri, C C; Menegatti, E E; Ghizzoni, L L
Publication Date: 2021-10

Variant appearance in text: rs2268622
PubMed Link: 33666875
Variant Present in the following documents:
  • Main text
  • 40618_2021_Article_1527.pdf
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs2268622
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Complexity in the genetic architecture of leukoaraiosis in hypertensive sibships from the GENOA Study.

Bmc Medical Genomics
Smith, Jennifer A JA; Turner, Stephen T ST; Sun, Yan V YV; Fornage, Myriam M; Kelly, Reagan J RJ; Mosley, Thomas H TH; Jack, Clifford R CR; Kullo, Iftikhar J IJ; Kardia, Sharon L R SL
Publication Date: 2009-04-07

Variant appearance in text: rs2268622
PubMed Link: 19351393
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigating the complex genetic architecture of ankle-brachial index, a measure of peripheral arterial disease, in non-Hispanic whites.

Bmc Medical Genomics
Kardia, Sharon Lr SL; Greene, M Todd MT; Boerwinkle, Eric E; Turner, Stephen T ST; Kullo, Iftikhar J IJ
Publication Date: 2008-05-15

Variant appearance in text: rs2268622
PubMed Link: 18482449
Variant Present in the following documents:
  • Main text
  • 1755-8794-1-16.pdf
View BVdb publication page