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Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1

Next-generation SequencingGeneticsDeep Intronic VariantSpinal Muscular AtrophyDisease Gene IdentificationGenomicsGenome SequencingSystems BiologyMedicineBioinformatics