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   Articles with "causing inside" as a keyword



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Segmental Uniparental Isodisomy Causing an "Inside-to-Outside" Limb-Girdle Muscular Dystrophy Due to a Homozygous Mutation in POGLUT1.

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recommendations! Published in 2023 at "JAMA neurology"

DOI: 10.1001/jamaneurol.2023.1286

Abstract: This case report describes segmental uniparental isodisomy causing an “inside-to-outside” limb-girdle muscular dystrophy due to a homozygous mutation in POGLUT1. read more here.

Keywords: inside outside; causing inside; segmental uniparental; isodisomy causing ... See more keywords