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Paper Details

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.
Pediatr Neurol
9
2021
Charcot-Marie-Tooth type 2S, Deep Intronic Variant, IGHMBP2, IGHMBP2 gene, NM_, Patient, RNA, Respiratory Distress Type 1, Spinal Muscular Atrophy, infantile respiratory failure, motor impairment, muscular atrophy with, recessive spinal motor neuropathies, respiratory distress type 1, spinal, spinal muscular atrophy
Author NameAffiliation
Pengfei LiuBaylor College of Medicine
Jonathan A BernsteinStanford University School of Medicine
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Release 1.2