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DMD c.2330T>C ;(p.L777P)
Variant ID: X-32519922-A-G
NM_004006.2(
DMD
):c.2330T>C;(p.L777P)
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: 2330T>C; L777P
PubMed Link:
35135626
Variant Present in the following documents:
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: 2330T>C; L777P
PubMed Link:
35135626
Variant Present in the following documents:
40478_2022_1320_MOESM1_ESM.pdf
View BVdb publication page