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: 493C>G; Gln165Glu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: CP: Q165E

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_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: 493C>G; Gln165Glu

PubMed Link: 32235485

Variant Present in the following documents:

• ijms-21-02374-s001.pdf

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: CP: 493C>G

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

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Epidemiology, Etiology, and Treatment of Isolated Cleft Palate.

Frontiers In Physiology

Burg, Madeleine L ML; Chai, Yang Y; Yao, Caroline A CA; Magee, William W; Figueiredo, Jane C JC

Publication Date: 2016

Variant appearance in text: CP: 493C>G

PubMed Link: 26973535

Variant Present in the following documents:

• Main text
• fphys-07-00067.pdf

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