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Johari M, Topf A, Folland C, Duff J, Dofash L, Marti P, Robertson T, Vilchez JJ, Cairns A, Harris E, Marini-Bettolo C, Ravenscroft G, Straub V
medRxiv : the preprint server for health sciences 2024 Feb 11
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Johari M, Topf A, Folland C, Duff J, Dofash L, Marti P, Robertson T, Vilchez JJ, Cairns A, Harris E, Marini-Bettolo C, Ravenscroft G, Straub V. Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial involvement. medRxiv : the preprint server for health sciences. 2024 Feb 11
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