Publications:

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Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION.

International Journal Of Molecular Sciences

Nazarenko, Maria S MS; Sleptcov, Aleksei A AA; Zarubin, Aleksei A AA; Salakhov, Ramil R RR; Shevchenko, Alexander I AI; Tmoyan, Narek A NA; Elisaphenko, Eugeny A EA; Zubkova, Ekaterina S ES; Zheltysheva, Nina V NV; Ezhov, Marat V MV; Kukharchuk, Valery V VV; Parfyonova, Yelena V YV; Zakian, Suren M SM; Zakharova, Irina S IS

Publication Date: 2023-02-24

Variant appearance in text: LDLR: G805R

PubMed Link: 36901902

Variant Present in the following documents:

• ijms-24-04471.pdf

View BVdb publication page

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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: 2413G>C; Gly805Arg

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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Prevalence and prognosis of molecularly defined familial hypercholesterolemia in patients with acute coronary syndrome.

Frontiers In Cardiovascular Medicine

Wang, Cheng C; Yu, Puliang P; Hu, Lizhi L; Liang, Minglu M; Mao, Yi Y; Zeng, Qiutang Q; Wang, Xiang X; Huang, Kai K; Yan, Jin J; Xie, Li L; Zhang, Fengxiao F; Zhu, Feng F

Publication Date: 2022

Variant appearance in text: LDLR: G805R

PubMed Link: 35966514

Variant Present in the following documents:

View BVdb publication page

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LDLR gene polymorphism (rs688) affects susceptibility to cardiovascular disease in end-stage kidney disease patients.

Bmc Nephrology

Buraczynska, Monika M; Jacob, Jerry J; Gwiazda-Tyndel, Karolina K; Ksiazek, Andrzej A

Publication Date: 2021-09-23

Variant appearance in text: LDLR: G805R

PubMed Link: 34556050

Variant Present in the following documents:

• 12882_2021_Article_2532.pdf

View BVdb publication page

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Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia.

Frontiers In Genetics

Oommen, Deepu D; Kizhakkedath, Praseetha P; Jawabri, Aseel A AA; Varghese, Divya Saro DS; Ali, Bassam R BR

Publication Date: 2020

Variant appearance in text: LDLR: G805R

PubMed Link: 33173538

Variant Present in the following documents:

• Main text
• fgene-11-570355.pdf

View BVdb publication page

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Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR Activity.

Arteriosclerosis, Thrombosis, And Vascular Biology

Banerjee, Poulabi P; Chan, Kuo-Chen KC; Tarabocchia, Michel M; Benito-Vicente, Asier A; Alves, Ana C AC; Uribe, Kepa B KB; Bourbon, Mafalda M; Skiba, Paul J PJ; Pordy, Robert R; Gipe, Daniel A DA; Gaudet, Daniel D; Martin, Cesar C

Publication Date: 2019-11

Variant appearance in text: LDLR: G805R

PubMed Link: 31578082

Variant Present in the following documents:

• atv-39-2248.pdf

View BVdb publication page

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LDLR Gene Polymorphisms (rs5925 and rs1529729) Are Associated with Susceptibility to Coronary Artery Disease in a South Indian Population.

Medical Sciences (Basel, Switzerland)

K Jha, Chandan C; Mir, Rashid R; Elfaki, Imadeldin I; Banu, Shaheena S; Chahal, S M S SMS

Publication Date: 2019-07-15

Variant appearance in text: LDLR: G805R

PubMed Link: 31311124

Variant Present in the following documents:

• medsci-07-00080.pdf

View BVdb publication page

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A novel indel variant in LDLR responsible for familial hypercholesterolemia in a Chinese family.

Plos One

Shu, Hongyan H; Chi, Jingwei J; Li, Jing J; Zhang, Wei W; Lv, Wenshan W; Wang, Jie J; Deng, Yujie Y; Hou, Xu X; Wang, Yangang Y

Publication Date: 2017

Variant appearance in text: LDLR: G805R

PubMed Link: 29228028

Variant Present in the following documents:

• pone.0189316.pdf

View BVdb publication page

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