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Exome-Sequencing Confirms DNAJC5 Mutations as Cause of Adult Neuronal Ceroid-Lipofuscinosis
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Segtor: Rapid Annotation of Genomic Coordinates and Single Nucleotide Variations Using Segment Trees
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Bioinformatic Analysis of Pathogenic Missense Mutations of Activin Receptor Like Kinase 1 Ectodomain
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