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: 517T>C; Cys173Arg

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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The LDLR c.501C>A is a disease-causing variant in familial hypercholesterolemia.

Lipids In Health And Disease

Hu, Haochang H; Chen, Ruoyu R; Hu, Yingchu Y; Wang, Jian J; Lin, Shaoyi S; Chen, Xiaomin X

Publication Date: 2021-09-12

Variant appearance in text: LDLR: 517T>C

PubMed Link: 34511120

Variant Present in the following documents:

• Main text
• 12944_2021_Article_1536.pdf

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: LDLR: 517T>C; Cys173Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: LDLR: 517T>C; Cys173Arg

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: LDLR: 517T>C; Cys173Arg

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Genetically confirmed familial hypercholesterolemia in outpatients with hypercholesterolemia.

Journal Of Geriatric Cardiology : Jgc

Wang, Xu X; Jiang, Long L; Sun, Li-Yuan LY; Wu, Yue Y; Wen, Wen-Hui WH; Wang, Xi-Fu XF; Liu, Wei W; Zhou, Yu-Jie YJ; Wang, Lu-Ya LY

Publication Date: 2018-06

Variant appearance in text: LDLR: 517T>C; Cys173Arg

PubMed Link: 30108616

Variant Present in the following documents:

• Main text
• jgc-15-06-434-s001.pdf
• jgc-15-06-434.pdf

View BVdb publication page

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The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.

Scientific Reports

Jiang, Long L; Wu, Wen-Feng WF; Sun, Li-Yuan LY; Chen, Pan-Pan PP; Wang, Wei W; Benito-Vicente, Asier A; Zhang, Fan F; Pan, Xiao-Dong XD; Cui, Wei W; Yang, Shi-Wei SW; Zhou, Yu-Jie YJ; Martin, Cesar C; Wang, Lu-Ya LY

Publication Date: 2016-11-10

Variant appearance in text: LDLR: Cys173Arg

PubMed Link: 27830735

Variant Present in the following documents:

• Main text
• srep36823.pdf

View BVdb publication page

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The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Scientific Reports

Jiang, Long L; Sun, Li-Yuan LY; Dai, Yan-Fang YF; Yang, Shi-Wei SW; Zhang, Feng F; Wang, Lu-Ya LY

Publication Date: 2015-11-26

Variant appearance in text: LDLR: 517T>C

PubMed Link: 26608663

Variant Present in the following documents:

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: C173R

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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