Publications:

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Efficacy and Safety of Alirocumab in Children and Adolescents With Homozygous Familial Hypercholesterolemia: Phase 3, Multinational Open-Label Study.

Arteriosclerosis, Thrombosis, And Vascular Biology

Bruckert, Eric E; Caprio, Sonia S; Wiegman, Albert A; Charng, Min-Ji MJ; Zárate-Morales, Cézar A CA; Baccara-Dinet, Marie T MT; Manvelian, Garen G; Ourliac, Anne A; Scemama, Michel M; Daniels, Stephen R SR

Publication Date: 2022-12

Variant appearance in text: LDLR: 2099A>G; Asp700Gly

PubMed Link: 36325897

Variant Present in the following documents:

• atv-42-1447-s001.pdf

View BVdb publication page

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Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.

Journal Of Atherosclerosis And Thrombosis

Huang, Chin-Chou CC; Niu, Dau-Ming DM; Charng, Min-Ji MJ

Publication Date: 2022-05-01

Variant appearance in text: LDLR: D700G; rs879255139

PubMed Link: 33994402

Variant Present in the following documents:

• jat-29-639.pdf

View BVdb publication page

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Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data.

Journal Of Clinical Medicine

Sabatel-Pérez, Fernando F; Sánchez-Prieto, Joaquín J; Becerra-Muñoz, Víctor Manuel VM; Alonso-Briales, Juan Horacio JH; Mata, Pedro P; Rodríguez-Padial, Luis L

Publication Date: 2021-02-13

Variant appearance in text: LDLR: 2099A>G; Asp700Gly

PubMed Link: 33668494

Variant Present in the following documents:

• jcm-10-00749-s001.pdf

View BVdb publication page

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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: D700G

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Frontiers In Genetics

Huang, Chin-Chou CC; Charng, Min-Ji MJ

Publication Date: 2020

Variant appearance in text: LDLR: 2099A>G; D700G

PubMed Link: 32793292

Variant Present in the following documents:

• Main text
• fgene-11-00833.pdf

View BVdb publication page

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Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Scientific Reports

Galicia-Garcia, Unai U; Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Larrea-Sebal, Asier A; Alonso-Estrada, Rocio R; Aguilo-Arce, Joseba J; Ostolaza, Helena H; Palacios, Lourdes L; Martin, Cesar C

Publication Date: 2020-02-03

Variant appearance in text: LDLR: asp700Gly

PubMed Link: 32015373

Variant Present in the following documents:

• Main text
• 41598_2020_58734_MOESM1_ESM.pdf
• 41598_2020_Article_58734.pdf

View BVdb publication page

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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: D700G

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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