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Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role invesicle-mediated sorting and intracellular protein transport
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Analysis of the human VPS13 gene family
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Clinical and molecular characterization of Italian patients affected by Cohen syndrome
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Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome
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Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome
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Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication
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Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population
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