Associated Papers
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.
Álvarez-Mora MI et al.
Orphanet Journal of Rare Diseases, 2022
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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