rs398123942
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.
|
26968818 |
2018 |
rs1556040444
|
|
T |
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 |
rs1556503937
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
|
28859693 |
2017 |
rs1557374667
|
|
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 |
rs398122853
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
|
27708273 |
2017 |
rs794726993
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
|
28859693 |
2017 |
rs373286166
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A case report with the peculiar concomitance of 2 different genetic syndromes.
|
27930565 |
2016 |
rs398124040
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
|
26911353 |
2016 |
rs878854366
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
|
27854218 |
2016 |
rs1556806356
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.
|
25972034 |
2015 |
rs794726993
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
rs1010666282
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients.
|
25244321 |
2014 |
rs1556035817
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
|
25007885 |
2014 |
rs1556040444
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients.
|
25244321 |
2014 |
rs1556040444
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
|
25007885 |
2014 |
rs1556802319
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
|
25007885 |
2014 |
rs1556806356
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
|
25007885 |
2014 |
rs1557374667
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
|
25007885 |
2014 |
rs398123923
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
|
25007885 |
2014 |
rs398123942
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMDBMD: a multi-population diagnostic study.
|
23756440 |
2014 |
rs398123827
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.
|
23536893 |
2013 |
rs398123909
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.
|
23453023 |
2013 |
rs373286166
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array.
|
22223181 |
2012 |
rs1385794215
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.
|
21399986 |
2011 |
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 |