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Atypical cerebral palsy: genomics analysis enables precision medicine
UploadGlutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS
UploadPLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
UploadSialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function
Download from doi.orgGain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype
UploadCommon variation near IRF6 is associated with IFN-β-induced liver injury in multiple sclerosis
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