Publications:

Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal.

Frontiers In Genetics

Alves, Ana Catarina AC; Miranda, Beatriz B; Moldovan, Oana O; Santo, Raquel Espírito RE; Gouveia Silva, Raquel R; Soares Cardoso, Sandra S; Diogo, Luísa L; Seidi, Mónica M; Sequeira, Silvia S; Bourbon, Mafalda M

Publication Date: 2022

Variant appearance in text: APOB: 4651C>T; Gln1551*

PubMed Link: 37138899

Variant Present in the following documents:

• Main text
• fgene-13-1088040.pdf

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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: APOB: 4651C>T; Gln1551Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Journal Of Lipid Research

Dong, Weilai W; Wong, Karen H Y KHY; Liu, Youbin Y; Levy-Sakin, Michal M; Hung, Wei-Chien WC; Li, Mo M; Li, Boyang B; Jin, Sheng Chih SC; Choi, Jungmin J; Lopez-Giraldez, Francesc F; Vaka, Dedeepya D; Poon, Annie A; Chu, Catherine C; Lao, Richard R; Balamir, Melek M; Movsesyan, Irina I; Malloy, Mary J MJ; Zhao, Hongyu H; Kwok, Pui-Yan PY; Kane, John P JP; Lifton, Richard P RP; Pullinger, Clive R CR

Publication Date: 2022-06

Variant appearance in text: APOB: Gln1551*; rs142017360

PubMed Link: 35460704

Variant Present in the following documents:

• mmc1.pdf

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