Associated Papers
Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome.
Zorn M et al.
Scientific Reports, 2022
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
Seifert W et al.
Human Mutation, 2009
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
Seifert W et al.
Journal of Medical Genetics, 2006
Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.
Hennies HC et al.
American Journal of Human Genetics, 2004
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