rs1385794215
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.
|
21396098 |
2011 |
rs1556503937
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
LOVD v.2.0: the next generation in gene variant databases.
|
21520333 |
2011 |
rs1556875224
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A population-based study of dystrophin mutations in Canada.
|
21515508 |
2011 |
rs1557380685
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
LOVD v.2.0: the next generation in gene variant databases.
|
21520333 |
2011 |
rs398123827
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform.
|
21969337 |
2011 |
rs398123942
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.
|
21396098 |
2011 |
rs1055371114
|
|
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 |
rs1556875224
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.
|
19959795 |
2010 |
rs398123942
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.
|
19959795 |
2010 |
rs398123942
|
|
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 |
rs398124099
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Transposable elements in disease-associated cryptic exons.
|
19823873 |
2010 |
rs1556503937
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Exon skipping-mediated dystrophin reading frame restoration for small mutations.
|
19760747 |
2009 |
rs1556503937
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
|
19937601 |
2009 |
rs1556806356
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
|
19937601 |
2009 |
rs373286166
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
|
19937601 |
2009 |
rs398122853
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.
|
19206170 |
2009 |
rs398122853
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.
|
19793655 |
2009 |
rs398123942
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
|
19937601 |
2009 |
rs794726993
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
|
19937601 |
2009 |
rs1556802319
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene.
|
17726484 |
2008 |
rs373286166
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients.
|
17854090 |
2008 |
rs398123852
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene.
|
17726484 |
2008 |
rs398123942
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes.
|
18652600 |
2008 |
rs1556806356
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
|
17259292 |
2007 |
rs1556875224
|
|
T |
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 |