A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
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A Novel Kleefstra Syndrome-associated Variant That Affects the
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A Mosaic Maternal Splice Donor Mutation In The EHMT1 Gene, 59% OFF
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A de novo splice site mutation in EHMT1 resulting in Kleefstra
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Splice Modulating Therapies for Human Disease: Cell
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Short Report in 2012 European Journal of Human Genetics
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A Novel Kleefstra Syndrome-associated Variant That Affects the
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An epigenetic framework for neurodevelopmental disorders: From
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