P237: A de novo gain-of-function ANO5 variant in a patient with anoctaminopathy5-related muscular dystrophy challenges the skeletal/muscular phenotype dichotomy into question
Reynold C. Ly(Indiana University School of Medicine), Francesco Vetrini(Indiana University – Purdue University Indianapolis), Kayla Treat(Indiana University – Purdue University Indianapolis), Anna Boccaccio(Instituto di Biofisica), Brett H. Graham(Baylor College of Medicine), Erin Conboy(Indiana University – Purdue University Indianapolis)
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