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: 47269+2T>C

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy.

Molecular Genetics & Genomic Medicine

Rich, Kelly A KA; Moscarello, Tia T; Siskind, Carly C; Brock, Guy G; Tan, Christopher A CA; Vatta, Matteo M; Winder, Thomas L TL; Elsheikh, Bakri B; Vicini, Leah L; Tucker, Brianna B; Palettas, Marilly M; Hershberger, Ray E RE; Kissel, John T JT; Morales, Ana A; Roggenbuck, Jennifer J

Publication Date: 2020-10

Variant appearance in text: TTN: 47269+2T>C

PubMed Link: 32815318

Variant Present in the following documents:

• Main text
• MGG3-8-e1460.pdf

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