Associated Papers
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S et al.
Nature Medicine, 2023
37291213 (PubMed )
Supplement: 41591_2023_2401_MOESM1_ESM.pdf
Novel Consensus Splice Site Pathogenic Variation in THOC2 Gene Leads to Recurrent Arthrogryposis Multiplex Congenita Phenotype: A Case Report.
Tamhankar V et al.
Cureus, 2021
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.
Costain G et al.
Jama Network Open, 2020
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.
Kumar R et al.
Frontiers in Molecular Neuroscience, 2020
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.
Kumar R et al.
Human Mutation, 2018
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