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DMD c.40_41delinsCC ;(p.E14P)
Variant ID: X-33038308-TC-GG
NM_004006.2(
DMD
):c.40_41delinsCC;(p.E14P)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
circRNA circ_102049 Implicates in Pancreatic Ductal Adenocarcinoma Progression through Activating CD80 by Targeting miR-455-3p.
Mediators Of Inflammation
Zhu, Jie J; Zhou, Yong Y; Zhu, Shanshan S; Li, Fei F; Xu, Jiajia J; Zhang, Liming L; Shu, Hairong H
Publication Date: 2021
Variant appearance in text: DMD: E14P
PubMed Link:
33505218
Variant Present in the following documents:
8819990.f10.pdf
View BVdb publication page
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.
Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09
Variant appearance in text: DMD: E14P
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page