Article

Candidate gene modifiers of dystrophinopathy identified by the uniform application of genome-wide datasets to novel GWAS-identified loci

2021-11-04

Abstract excerpt

Although the major determinant of disease severity in patients with severe Duchenne muscular dystrophy (DMD) or milder Becker muscular dystrophy (BMD) is whether their dystrophin gene ( DMD ) mutation disrupts the mRNA reading frame or allows expression of a partially functional protein, other genes have been proposed or demonstrated to modify the severity of disease progression. In a companion paper to this one,...

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Literature Corpus work: d4922a7f-3901-5dfa-ac9e-02c97ad0aaa0
DOI: 10.1101/2021.11.03.21265899

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