DMD c.76A>C ;(p.N26H)

Variant ID: X-33038273-T-G

NM_004006.2(DMD):c.76A>C;(p.N26H)

This variant was identified in 3 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: 76A>C; N26H
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: 76A>C; N26H
PubMed Link: 35135626
Variant Present in the following documents:
  • 40478_2022_1320_MOESM1_ESM.pdf
View BVdb publication page



What Every Neuropathologist Needs to Know: The Muscle Biopsy.

Journal Of Neuropathology And Experimental Neurology
Nix, James S JS; Moore, Steven A SA
Publication Date: 2020-07-01

Variant appearance in text: DMD: 76A>C; N26H
PubMed Link: 32529201
Variant Present in the following documents:
  • Main text
  • nlaa046.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: N26H
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page