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: RYR1: 13919T>G; Met4640Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia.

Journal Of Neuromuscular Diseases

Parker, Remai R; Schiemann, Anja H AH; Langton, Elaine E; Bulger, Terasa T; Pollock, Neil N; Bjorksten, Andrew A; Gillies, Robyn R; Hutchinson, David D; Roxburgh, Richard R; Stowell, Kathryn M KM

Publication Date: 2017

Variant appearance in text: RYR1: Met4640Arg

PubMed Link: 28527222

Variant Present in the following documents:

• Main text
• jnd-4-jnd170210.pdf

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Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.

Neuromuscular Disorders : Nmd

Kraeva, Natalia N; Zvaritch, Elena E; Rossi, Ann E AE; Goonasekera, Sanjeewa A SA; Zaid, Hilal H; Frodis, Wanda W; Kraev, Alexander A; Dirksen, Robert T RT; Maclennan, David H DH; Riazi, Sheila S

Publication Date: 2013-02

Variant appearance in text: RYR1: 13919T>G

PubMed Link: 23183335

Variant Present in the following documents:

• Main text

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