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DMD c.239C>A ;(p.A80E)
Variant ID: X-32862925-G-T
NM_004006.2(
DMD
):c.239C>A;(p.A80E)
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:
The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies.
Acta Neuropathologica Communications
Becker, Nicole N; Moore, Steven A SA; Jones, Karra A KA
Publication Date: 2022-02-08
Variant appearance in text: DMD: 239C>A; A80E
PubMed Link:
35135626
Variant Present in the following documents:
Main text
40478_2022_Article_1320.pdf
40478_2022_1320_MOESM1_ESM.pdf
View BVdb publication page
The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies.
Acta Neuropathologica Communications
Becker, Nicole N; Moore, Steven A SA; Jones, Karra A KA
Publication Date: 2022-02-08
Variant appearance in text: DMD: 239C>A; A80E
PubMed Link:
35135626
Variant Present in the following documents:
Main text
40478_2022_Article_1320.pdf
40478_2022_1320_MOESM1_ESM.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: A80E
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page