rs128626250
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
A
0.700
CausalMutation
CLINVAR
A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.
25612904
2015
rs128626250
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
A
0.700
CausalMutation
CLINVAR
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.
23536893
2013
rs128626250
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
A
0.700
CausalMutation
CLINVAR
Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle.
22092019
2012
rs128626250
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
A
0.700
CausalMutation
CLINVAR
Point mutations in Czech DMD/BMD patients and their phenotypic outcome.
19783145
2009
rs128626250
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
A
0.700
CausalMutation
CLINVAR
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
19937601
2009
rs128626250
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
A
0.700
CausalMutation
CLINVAR
Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.
17952667
2007
rs128626250
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
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
rs128626250
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
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
rs128626250
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
A
0.700
CausalMutation
CLINVAR
Novel point mutations in the dystrophin gene.
9298822
1997
rs128626250
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
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
rs128626250
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
A
0.700
CausalMutation
CLINVAR
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.
7951253
1994