rs121908028
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
INTERIM guidelines for the diagnosis and management of familial hypercholesterolaemia.
22364837
2012
rs121908028
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.
22160468
2012
rs121908028
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum.
23725921
2013
rs121908028
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs121908028
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.
24418289
2014
rs121908028
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.
25053660
2014
rs121908028
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum.
24636176
2014
rs121908028
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs121908028
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
Recommendations for the management of patients with familial hypercholesterolemia.
25404096
2015
rs121908028
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017