| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
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 | Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. | 23536893 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle. | 22092019 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | Point mutations in Czech DMD/BMD patients and their phenotypic outcome. | 19783145 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. | 19937601 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol. | 17952667 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. | 17041906 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. | 16770791 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | Novel point mutations in the dystrophin gene. | 9298822 | 1997 |
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|
A | 0.700 | CausalMutation | CLINVAR | The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test. | 7668256 | 1995 |
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|
A | 0.700 | CausalMutation | CLINVAR | Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations. | 7951253 | 1994 |