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.




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