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DMD c.343A>T ;(p.I115F)
Variant ID: X-32841426-T-A
NM_004006.2(
DMD
):c.343A>T;(p.I115F)
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:
Moving neuromuscular disorders research forward: from novel models to clinical studies.
Disease Models & Mechanisms
van Putten, Maaike M; Hmeljak, Julija J; Aartsma-Rus, Annemieke A; Dowling, James J JJ
Publication Date: 2020-02-25
Variant appearance in text: DMD: I115F
PubMed Link:
32224497
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: I115F
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page