×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
GeneticVariation
CLINVAR
A systematic approach to assessing the clinical significance of genetic variants.
24033266
2013
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
A systematic approach to assessing the clinical significance of genetic variants.
24033266
2013
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
A transgenic rabbit model for human hypertrophic cardiomyopathy.
10606622
1999
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells.
23290139
2013
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
GeneticVariation
CLINVAR
Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.
7883988
1995
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.
7883988
1995
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
Accumulation and assembly of myosin in hypertrophic cardiomyopathy with the 403 Arg to Gln beta-myosin heavy chain mutation.
1423936
1992
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.
18414213
2008
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
GeneticVariation
UNIPROT
Adult-onset familial hypertrophic cardiomyopathy caused by a novel mutation, R694C, in the MYH7 gene.
10563488
1999
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
Apical hypertrophic cardiomyopathy due to a de novo mutation Arg719Trp of the beta-myosin heavy chain gene and cardiac arrest in childhood. A case report and family study.
10957787
2000
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
GeneticVariation
UNIPROT
Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy.
12081993
2002
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
GeneticVariation
CLINVAR
Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy.
12081993
2002
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
GeneticVariation
UNIPROT
Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children.
11133230
2001
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children.
11133230
2001
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
Cardiac and skeletal muscle expression of mutant β-myosin heavy chains, degree of functional impairment and phenotypic heterogeneity in hypertrophic cardiomyopathy.
22213221
2012
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
Cardiomyopathy mutations in the tail of β-cardiac myosin modify the coiled-coil structure and affect integration into thick filaments in muscle sarcomeres in adult cardiomyocytes.
24047955
2013
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance.
19651039
2009
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
Cell-intrinsic functional effects of the α-cardiac myosin Arg-403-Gln mutation in familial hypertrophic cardiomyopathy.
22735528
2012
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.
1552912
1992
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
GeneticVariation
UNIPROT
Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.
1552912
1992
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.
24793961
2014
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
GeneticVariation
CLINVAR
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.
24793961
2014
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
GeneticVariation
CLINVAR
Child abuse and neglect: a study of cases reported to Douglas County Child Protective Service from 1967-1973.
1186938
1975
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
GeneticVariation
CLINVAR
Clinical and prognostic evaluation of familial hypertrophic cardiomyopathy in two South African families with different cardiac beta myosin heavy chain gene mutations.
7662452
1995
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700
CausalMutation
CLINVAR
Clinical and prognostic evaluation of familial hypertrophic cardiomyopathy in two South African families with different cardiac beta myosin heavy chain gene mutations.
7662452
1995