Recurrent Arginine Substitutions in the ACTG2 Gene are the Primary Driver of Disease Burden and Severity in Visceral Myopathy

Nurit Assia Batzir, Pranjali Kishor Bhagwat, Austin Larson, Zeynep Coban Akdemir, Maciej Bagłaj, Leon Bofferding, Katherine B. Bosanko, Skander Bouassida, Bert Callewaert, Ashley Cannon, Yazmin Enchautegui Colon, Adolfo D. Garnica, Margaret H. Harr, Sandra Heck, Anna C. Hurst, Shalini N. Jhangiani, Bertrand Isidor, Rebecca O. Littlejohn, Pengfei Liu, Pilar MagoulasHelen Mar Fan, Ronit Marom, Scott McLean, Marjan M. Nezarati, Kimberly M. Nugent, Michael B. Petersen, Maria Linda Rocha, Elizabeth Roeder, Robert Smigiel, Ian Tully, James Weisfeld-Adams, Katerina O. Wells, Baylor-Hopkins Center for Mendelian Genomics, Jennifer E. Posey, James R. Lupski, Arthur L. Beaudet, Michael F. Wangler

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology