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Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses
Download from onlinelibrary.wiley.comGenetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing
UploadExpanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic
Download from www.nature.comConfirmation of SLC5A7 -related distal hereditary motor neuropathy 7 in a family outside Wales
Download from api.wiley.comNovel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy
Download from www.nature.comA novel mutation in SLC1A3 causes episodic ataxia
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