Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: LDLR: 986G>T; Cys329Phe

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: 986G>T; Cys329Phe

PubMed Link: 36325061

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Prevalence of genetically defined familial hypercholesterolemia and the impact on acute myocardial infarction in Taiwanese population: A hospital-based study.

Frontiers In Cardiovascular Medicine

Chen, Yen-Ju YJ; Chen, I-Chieh IC; Chen, Yi-Ming YM; Hsiao, Tzu-Hung TH; Wei, Chia-Yi CY; Chuang, Han-Ni HN; Lin, Wei-Wen WW; Lin, Ching-Heng CH

Publication Date: 2022

Variant appearance in text: rs761954844

PubMed Link: 36172582

Variant Present in the following documents:

• Main text
• fcvm-09-994662.pdf

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Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia).

Journal Of Personalized Medicine

Shakhtshneider, Elena E; Ivanoshchuk, Dinara D; Timoshchenko, Olga O; Orlov, Pavel P; Semaev, Sergey S; Valeev, Emil E; Goonko, Andrew A; Ladygina, Nataliya N; Voevoda, Mikhail M

Publication Date: 2021-11-19

Variant appearance in text: rs761954844

PubMed Link: 34834584

Variant Present in the following documents:

• Main text

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: 986G>T; Cys329Phe

PubMed Link: 32015373

Variant Present in the following documents:

• 41598_2020_58734_MOESM1_ESM.pdf

View BVdb publication page

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Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Journal Of The Endocrine Society

Ittisoponpisan, Sirawit S; David, Alessia A

Publication Date: 2018-08-01

Variant appearance in text: rs761954844

PubMed Link: 30019023

Variant Present in the following documents:

View BVdb publication page

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The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Metabolism: Clinical And Experimental

Sharifi, Mahtab M; Walus-Miarka, Małgorzata M; Idzior-Waluś, Barbara B; Malecki, Maciej T MT; Sanak, Marek M; Whittall, Ros R; Li, Ka Wah KW; Futema, Marta M; Humphries, Steve E SE

Publication Date: 2016-03

Variant appearance in text: LDLR: Cys329Phe

PubMed Link: 26892515

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: LDLR: C329F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.

Molecular Biology Reports

Waluś-Miarka, Małgorzata M; Sanak, Marek M; Idzior-Waluś, Barbara B; Miarka, Przemysław P; Witek, Przemysław P; Małecki, Maciej T MT; Czarnecka, Danuta D

Publication Date: 2012-05

Variant appearance in text: LDLR: C329F

PubMed Link: 22160468

Variant Present in the following documents:

• Main text
• 11033_2011_Article_1314.pdf

View BVdb publication page

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