×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.
26020417 2016
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Mutation detection in Chinese patients with familial hypercholesterolemia.
28028493 2016
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
Genetic testing of familial hypercholesterolemia in a real clinical setting.
27542166 2016
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations.
27816806 2016
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
Molecular analysis of the LDLR gene in coronary artery disease patients from the Indian population.
26927322 2016
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.
27765764 2016
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Genetic identification of familial hypercholesterolemia within a single U.S. health care system.
28008010 2016
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations.
27680772 2016
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
Genetic identification of familial hypercholesterolemia within a single U.S. health care system.
28008010 2016
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
25647241 2015
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
25647241 2015
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.
25461735 2015
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
25487149 2015
×
Entrez Id: 338
Gene Symbol: APOB
APOB
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.
25461735 2015
×
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.
26374825 2015
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
25637381 2015
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement.
25412742 2015
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
25637381 2015
×
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.
25962062 2015
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
25487149 2015
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159 2015
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Functional characterization and classification of frequent low-density lipoprotein receptor variants.
25378237 2015
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
CausalMutation
CLINVAR
Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.
25962062 2015
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.
25545329 2015
×
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
Familial hypercholesterolemia - homozygous
0.200
GeneticVariation
CLINVAR
Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.
25461735 2015