ITGB3 c.614+234C>T

Variant ID: 17-45362295-C-T

NM_000212.2(ITGB3):c.614+234C>T

This variant was identified in 2 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: ITGB3: 614+234C>T; rs2292699
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.

American Journal Of Human Genetics
Webb, Bryn D BD; Shaaban, Sherin S; Gaspar, Harald H; Cunha, Luis F LF; Schubert, Christian R CR; Hao, Ke K; Robson, Caroline D CD; Chan, Wai-Man WM; Andrews, Caroline C; MacKinnon, Sarah S; Oystreck, Darren T DT; Hunter, David G DG; Iacovelli, Anthony J AJ; Ye, Xiaoqian X; Camminady, Anne A; Engle, Elizabeth C EC; Jabs, Ethylin Wang EW
Publication Date: 2012-07-13

Variant appearance in text: rs2292699
PubMed Link: 22770981
Variant Present in the following documents:
  • Main text
View BVdb publication page