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DMD c.1724T>C ;(p.L575P)
Variant ID: X-32591735-A-G
NM_004006.2(
DMD
):c.1724T>C;(p.L575P)
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: 1724T>C; L575P
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: 1724T>C; L575P
PubMed Link:
35135626
Variant Present in the following documents:
40478_2022_1320_MOESM1_ESM.pdf
View BVdb publication page
Pseudometabolic presentation of dystrophinopathy due to a missense mutation.
Muscle & Nerve
Veerapandiyan, Aravindhan A; Shashi, Vandana V; Jiang, Yong-Hui YH; Gallentine, William Brian WB; Schoch, Kelly K; Smith, Edward Clinton EC
Publication Date: 2010-12
Variant appearance in text: DMD: 1724T>C; Leu575Pro
PubMed Link:
21104870
Variant Present in the following documents:
Main text
View BVdb publication page