×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
0.100
CausalMutation
disease
CLINVAR
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
0.100
CausalMutation
disease
CLINVAR
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
25611685
2015
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
0.100
CausalMutation
disease
CLINVAR
Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia?
26535225
2015
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
0.100
CausalMutation
disease
CLINVAR
Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy.
23568436
2013
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
0.100
CausalMutation
disease
CLINVAR
The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase.
22155237
2012
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
0.100
CausalMutation
disease
CLINVAR
Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.
22707725
2012
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
0.100
CausalMutation
disease
CLINVAR
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.
22820313
2012
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
0.100
CausalMutation
disease
CLINVAR
PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.
21167350
2011
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
0.100
CausalMutation
disease
CLINVAR
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.
17655857
2007
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
0.100
CausalMutation
disease
CLINVAR
A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.
16432188
2006
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
0.100
CausalMutation
disease
CLINVAR
Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human.
12639993
2003