Associated Papers
Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD.
Jin J et al.
Frontiers in Genetics, 2019
Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.
Worth PF et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2013
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