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DMD c.44A>C ;(p.D15A)
Variant ID: X-33038305-T-G
NM_004006.2(
DMD
):c.44A>C;(p.D15A)
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:
Current Status and Challenges of DNA Base Editing Tools.
Molecular Therapy : The Journal Of The American Society Of Gene Therapy
Jeong, You Kyeong YK; Song, Beomjong B; Bae, Sangsu S
Publication Date: 2020-09-02
Variant appearance in text: DMD: D15A
PubMed Link:
32763143
Variant Present in the following documents:
Main text
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: D15A
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page