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: CP: 643C>T; Arg215Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.

International Journal Of Molecular Sciences

Vila Cuenca, Marc M; Marchi, Giacomo G; Barqué, Anna A; Esteban-Jurado, Clara C; Marchetto, Alessandro A; Giorgetti, Alejandro A; Chelban, Viorica V; Houlden, Henry H; Wood, Nicholas W NW; Piubelli, Chiara C; Dorigatti Borges, Marina M; Martins de Albuquerque, Dulcinéia D; Yotsumoto Fertrin, Kleber K; Jové-Buxeda, Ester E; Sanchez-Delgado, Jordi J; Baena-Díez, Neus N; Burnyte, Birute B; Utkus, Algirdas A; Busti, Fabiana F; Kaubrys, Gintaras G; Suku, Eda E; Kowalczyk, Kamil K; Karaszewski, Bartosz B; Porter, John B JB; Pollard, Sally S; Eleftheriou, Perla P; Bignell, Patricia P; Girelli, Domenico D; Sanchez, Mayka M

Publication Date: 2020-03-30

Variant appearance in text: CP: 643C>T; Arg215Ter

PubMed Link: 32235485

Variant Present in the following documents:

• ijms-21-02374-s001.pdf

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Differential requirements of tubulin genes in mammalian forebrain development.

Plos Genetics

Bittermann, Elizabeth E; Abdelhamed, Zakia Z; Liegel, Ryan P RP; Menke, Chelsea C; Timms, Andrew A; Beier, David R DR; Stottmann, Rolf W RW

Publication Date: 2019-08

Variant appearance in text: CP: R215*

PubMed Link: 31386652

Variant Present in the following documents:

• Main text

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