Publications:

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: 2476C>A; Pro826Thr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia.

Journal Of Clinical Medicine

Di Taranto, Maria Donata MD; Giacobbe, Carola C; Buonaiuto, Alessio A; Calcaterra, Ilenia I; Palma, Daniela D; Maione, Giovanna G; Iannuzzo, Gabriella G; Di Minno, Matteo Nicola Dario MND; Rubba, Paolo P; Fortunato, Giuliana G

Publication Date: 2020-01-14

Variant appearance in text: LDLR: 2476C>A; Pro826Thr

PubMed Link: 31947532

Variant Present in the following documents:

• Main text
• jcm-09-00219.pdf

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