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: 1754T>C; Ile585Thr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case Series.

Frontiers In Genetics

Marusic, Tatiana T; Sustar, Ursa U; Sadiq, Fouzia F; Kotori, Vjosa V; Mlinaric, Matej M; Kovac, Jernej J; Shafi, Saeed S; Khan, Iqbal I; Cevc, Matija M; Trebusak Podkrajsek, Katarina K; Battelino, Tadej T; Groselj, Urh U

Publication Date: 2020

Variant appearance in text: LDLR: Ile585Thr

PubMed Link: 33093846

Variant Present in the following documents:

• Main text
• fgene-11-572176.pdf

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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: I585T

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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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: 1754T>C; Ile585Thr

PubMed Link: 32015373

Variant Present in the following documents:

• 41598_2020_58734_MOESM1_ESM.pdf

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Improving the cost-effectiveness equation of cascade testing for familial hypercholesterolaemia.

Current Opinion In Lipidology

Pears, Robert R; Griffin, Michael M; Futema, Marta M; Humphries, Steve E SE

Publication Date: 2015-06

Variant appearance in text: LDLR: Ile585Thr

PubMed Link: 25887683

Variant Present in the following documents:

• colip-26-162.pdf

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Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.

Journal Of Internal Medicine

Maglio, C C; Mancina, R M RM; Motta, B M BM; Stef, M M; Pirazzi, C C; Palacios, L L; Askaryar, N N; Borén, J J; Wiklund, O O; Romeo, S S

Publication Date: 2014-10

Variant appearance in text: LDLR: 1754T>C; Ile585Thr

PubMed Link: 24785115

Variant Present in the following documents:

• Main text
• joim0276-0396.pdf

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