Research: A missense variant in EXOSC8 causes exon skipping and expands the phenotypi [Archive] - CDH Clubhouse - Congenital Diaphragmatic Hernia Support Group hosted by CDH International

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12-03-2023, 09:29 PM

J Hum Genet . 2023 Nov 29. doi: 10.1038/s10038-023-01207-4. Online ahead of

More... (https://cdhi.org/research-a-missense-variant-in-exosc8-causes-exon-skipping-and-expands-the-phenotypic-spectrum-of-pontocerebellar-hypoplasia-type-1c/)