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Cohen syndrome
A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation
Article
Year: 2021
Pages: 1
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A Novel Homozygous
VPS13B
Splice-Site Mutation Causing the Skipping of Exon 38 in a Chinese Family With Cohen Syndrome
Article
Year: 2021
Pages: 1
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The Vps13 Family of Lipid Transporters and Its Role at Membrane Contact Sites
Article
Year: 2021
Pages: 1
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Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with
VPS13B
missense mutations
Article
Year: 2020
Pages: 1
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