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DMD c.1331+127G>A
Variant ID: X-32662122-C-T
NM_004006.2(
DMD
):c.1331+127G>A
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: rs5928065
PubMed Link:
30319441
Variant Present in the following documents:
Table_6.xlsx, sheet 1
Table_7.xlsx, sheet 1
View BVdb publication page
Genotypes Affecting the Pharmacokinetics of Anticancer Drugs.
Clinical Pharmacokinetics
Bertholee, Daphne D; Maring, Jan Gerard JG; van Kuilenburg, André B P AB
Publication Date: 2017-04
Variant appearance in text: DMD: 1331+127G>A; rs5928065
PubMed Link:
27641154
Variant Present in the following documents:
Main text
40262_2016_Article_450.pdf
View BVdb publication page
The female protective effect in autism spectrum disorder is not mediated by a single genetic locus.
Molecular Autism
Gockley, Jake J; Willsey, A Jeremy AJ; Dong, Shan S; Dougherty, Joseph D JD; Constantino, John N JN; Sanders, Stephan J SJ
Publication Date: 2015
Variant appearance in text: rs5928065
PubMed Link:
25973162
Variant Present in the following documents:
Main text
13229_2015_Article_14.pdf
View BVdb publication page