[HTML][HTML] Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and …

JR Chora, AM Medeiros, AC Alves, M Bourbon - Genetics in Medicine, 2018 - Elsevier
Purpose Familial hypercholesterolemia (FH) is an autosomal disorder of lipid metabolism
presenting with increased cardiovascular risk. Although more than 1,700 variants have been …

Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for …

JR Chora, AM Medeiros, AC Alves… - Genetics in …, 2018 - search.proquest.com
PurposeFamilial hypercholesterolemia (FH) is an autosomal disorder of lipid metabolism
presenting with increased cardiovascular risk. Although more than 1,700 variants have been …

[HTML][HTML] Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and …

JR Chora, AM Medeiros, AC Alves… - Genetics in Medicine, 2018 - gimjournal.org
Purpose Familial hypercholesterolemia (FH) is an autosomal disorder of lipid metabolism
presenting with increased cardiovascular risk. Although more than 1,700 variants have been …

Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for …

JR Chora, AM Medeiros, AC Alves… - Genetics in medicine …, 2018 - pubmed.ncbi.nlm.nih.gov
PurposeFamilial hypercholesterolemia (FH) is an autosomal disorder of lipid metabolism
presenting with increased cardiovascular risk. Although more than 1,700 variants have been …

[HTML][HTML] Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and …

JR Chora, AM Medeiros, AC Alves, M Bourbon - Genetics in Medicine, 2018 - nature.com
Purpose Familial hypercholesterolemia (FH) is an autosomal disorder of lipid metabolism
presenting with increased cardiovascular risk. Although more than 1,700 variants have been …

Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for …

JR Chora, AM Medeiros, AC Alves… - Genetics in Medicine …, 2017 - europepmc.org
PurposeFamilial hypercholesterolemia (FH) is an autosomal disorder of lipid metabolism
presenting with increased cardiovascular risk. Although more than 1,700 variants have been …

Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for …

JR Chora, AM Medeiros, AC Alves… - Genetics in …, 2017 - repositorio.insa.pt
PurposeFamilial hypercholesterolemia (FH) is an autosomal disorder of lipid metabolism
presenting with increased cardiovascular risk. Although more than 1,700 variants have been …

[引用][C] Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and …

JR Chora, AM Medeiros, AC Alves… - IX Congresso Novas …, 2019 - repositorio.insa.pt
Repositório Científico do Instituto Nacional de Saúde: Analysis of publicly available LDLR,
APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of …

Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for …

JR Chora, AM Medeiros, AC Alves… - Genetics in …, 2018 - search.proquest.com
Purpose Familial hypercholesterolemia (FH) is an autosomal disorder of lipid metabolism
presenting with increased cardiovascular risk. Although more than 1,700 variants have been …