EGF c.2372-130C>T

Variant ID: 4-110904448-C-T

NM_001963.4(EGF):c.2372-130C>T

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: EGF: 2372-130C>T; rs6824594
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs6824594
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Pathway analysis for genome-wide association study of basal cell carcinoma of the skin.

Plos One
Zhang, Mingfeng M; Liang, Liming L; Xu, Mousheng M; Qureshi, Abrar A AA; Han, Jiali J
Publication Date: 2011

Variant appearance in text: rs6824594
PubMed Link: 21829505
Variant Present in the following documents:
  • Main text
  • pone.0022760.pdf
View BVdb publication page