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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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