Publications:

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: 79793T>G

PubMed Link: 32815318

Variant Present in the following documents:

• Main text
• MGG3-8-e1460.pdf

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