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Author Correction: PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing
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UploadMechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Download from doi.orgRefining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D
Download from onlinelibrary.wiley.comRAP1-mediated MEK/ERK pathway defects in Kabuki syndrome
Download from www.jci.orgFurther delineation of the KAT6B molecular and phenotypic spectrum
Download from hal-univ-rennes1.archives-ouvertes.frThe genetic basis of DOORS syndrome: An exome-sequencing study
Download from doi.orgExome Sequencing Identifies a DominantTNNT3Mutation in a Large Family with Distal Arthrogryposis
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