Publications:

Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.

Iscience

Du, Zhiyong Z; Li, Fan F; Li, Linyi L; Wang, Yu Y; Li, Jianping J; Yang, Ya Y; Jiang, Long L; Wang, Luya L; Qin, Yanwen Y

Publication Date: 2022-11-18

Variant appearance in text: LDLR: 2132G>C; Cys711Ser

PubMed Link: 36325061

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: LDLR: C711S

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: LDLR: C711S

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Human Mutation

Marduel, Marie M; Carrié, Alain A; Sassolas, Agnes A; Devillers, Martine M; Carreau, Valérie V; Di Filippo, Mathilde M; Erlich, Danièle D; Abifadel, Marianne M; Marques-Pinheiro, Alice A; Munnich, Arnold A; Junien, Claudine C; , ; Boileau, Catherine C; Varret, Mathilde M; Rabès, Jean-Pierre JP

Publication Date: 2010-11

Variant appearance in text: LDLR: 2132G>C; Cys711Ser

PubMed Link: 20809525

Variant Present in the following documents:

• Main text
• humu0031-E1811.pdf

View BVdb publication page