Associated Papers
SpliceVault predicts the precise nature of variant-associated mis-splicing.
Dawes R et al.
Nature Genetics, 2023
36747048 (PubMed )
Supplement: 41588_2022_1293_MOESM3_ESM.xlsx › Table_2_RNA_studies__n_58_
Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants.
Del Pino M et al.
European Journal of Medical Genetics, 2021
Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.
Linders PTA et al.
International Journal of Molecular Sciences, 2020
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.
Wehrle A et al.
Jci Insight, 2019
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