| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. | 27593222 | 2017 |
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|
A | 0.700 | CausalMutation | CLINVAR | A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China. | 25612904 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. | 25007885 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | A population-based study of dystrophin mutations in Canada. | 21515508 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. | 20485447 | 2010 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy. | 19074751 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. | 19367636 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test. | 9544849 | 1998 |
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|
A | 0.700 | CausalMutation | CLINVAR | Seven novel additional small mutations and a new alternative splicing in the human dystrophin gene detected by heteroduplex analysis and restricted RT-PCR heteroduplex analysis of illegitimate transcripts. | 8840119 | 1996 |