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Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy
UploadFetal acetylcholine receptor inactivation syndrome: A myopathy due to maternal antibodies
Download from dx.doi.orgOphthalmologic Features of Vici Syndrome
Download from www.researchgate.netGenetic disorders of thyroid metabolism and brain development
Download from onlinelibrary.wiley.comTreatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2
Download from doi.orgBenign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.
UploadVici sy Nature Cullup et al. (Supplemental Information)
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