Associated Papers
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.
Kunisetty B et al.
Investigative Ophthalmology & Visual Science, 2024
38502138 (PubMed )
Supplement: iovs-65-3-25_s002.xlsx › Sheet1
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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