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: MVK: 16_34del; Leu6fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Mediators Of Inflammation

Gaggiano, Carla C; Rigante, Donato D; Vitale, Antonio A; Lucherini, Orso Maria OM; Fabbiani, Alessandra A; Capozio, Giovanna G; Marzo, Chiara C; Gelardi, Viviana V; Grosso, Salvatore S; Frediani, Bruno B; Renieri, Alessandra A; Cantarini, Luca L

Publication Date: 2019

Variant appearance in text: MVK: 16_34del; Leu6Glyfs; rs104895334

PubMed Link: 32082075

Variant Present in the following documents:

• Main text
• MI2019-3293145.pdf

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Mevalonate kinase deficiency and IBD: shared genetic background.

Gut

Bianco, Anna Monica AM; Girardelli, Martina M; Vozzi, Diego D; Crovella, Sergio S; Kleiner, Giulio G; Marcuzzi, Annalisa A

Publication Date: 2014-08

Variant appearance in text: MVK: 16_34del; rs104895334

PubMed Link: 24531851

Variant Present in the following documents:

• Main text
• gutjnl-2013-306555.pdf

View BVdb publication page