MED23 c.1613+46G>A

Variant ID: 6-131926334-C-T

NM_004830.3(MED23):c.1613+46G>A

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: MED23: 1613+46G>A; rs2608953
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2608953
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Genome-wide association study of L-arginine and dimethylarginines reveals novel metabolic pathway for symmetric dimethylarginine.

Circulation. Cardiovascular Genetics
Lüneburg, Nicole N; Lieb, Wolfgang W; Zeller, Tanja T; Chen, Ming-Huei MH; Maas, Renke R; Carter, Angela M AM; Xanthakis, Vanessa V; Glazer, Nicole L NL; Schwedhelm, Edzard E; Seshadri, Sudha S; Ikram, Mohammad Arfan MA; Longstreth, William T WT; Fornage, Myriam M; König, Inke R IR; Loley, Christina C; Ojeda, Francisco M FM; Schillert, Arne A; Wang, Thomas J TJ; Sticht, Heinrich H; Kittel, Anja A; König, Jörg J; Benjamin, Emelia J EJ; Sullivan, Lisa M LM; Bernges, Isabel I; Anderssohn, Maike M; Ziegler, Andreas A; Gieger, Christian C; Illig, Thomas T; Meisinger, Christa C; Wichmann, H-Erich HE; Wild, Philipp S PS; Schunkert, Heribert H; Psaty, Bruce M BM; Wiggins, Kerri L KL; Heckbert, Susan R SR; Smith, Nicholas N; Lackner, Karl K; Lunetta, Kathryn L KL; Blankenberg, Stefan S; Erdmann, Jeanette J; Munzel, Thomas T; Grant, Peter J PJ; Vasan, Ramachandran S RS; Böger, Rainer H RH
Publication Date: 2014-12

Variant appearance in text: rs2608953
PubMed Link: 25245031
Variant Present in the following documents:
  • Main text
View BVdb publication page