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: TTN: 107890C>T; Gln35964Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A novel mutation in TTN gene in a Saudi patient with bilateral facial weakness and scapular winging.

Intractable & Rare Diseases Research

Algahtani, Hussein H; Shirah, Bader B; Algahtani, Raghad R; Al-Qahtani, Mohammad H MH; Abdulkareem, Angham Abdulrahman AA; Naseer, Muhammad Imran MI

Publication Date: 2019-05

Variant appearance in text: TMD: 107890C>T

PubMed Link: 31218166

Variant Present in the following documents:

• Main text

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Increasing Role of Titin Mutations in Neuromuscular Disorders.

Journal Of Neuromuscular Diseases

Savarese, Marco M; Sarparanta, Jaakko J; Vihola, Anna A; Udd, Bjarne B; Hackman, Peter P

Publication Date: 2016-08-30

Variant appearance in text: TMD: 107890C>T

PubMed Link: 27854229

Variant Present in the following documents:

• Main text
• jnd-3-jnd160158.pdf

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