|
Hypertrophic Cardiomyopathy
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
GeneticVariation
|
BEFREE |
MYH7-R1053Q was the third most common mutation, and should be screened in all new cases of HCM in Finland.
|
24888384 |
2014 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
GeneticVariation
|
CLINVAR |
A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy.
|
24888384 |
2014 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy.
|
15556047 |
2004 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy.
|
15556047 |
2004 |
|
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Current perspectives in hypertrophic cardiomyopathy with the focus on patients in the Finnish population: a review.
|
27460395 |
2016 |
|
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.
|
27247418 |
2016 |
|
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy.
|
24888384 |
2014 |
|
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.
|
20624503 |
2011 |
|
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.
|
21310275 |
2011 |
|
Cardiomyopathy, Hypertrophic, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy.
|
15556047 |
2004 |