Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Husain RA et al.
Brain : a Journal of Neurology, 2024
The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants.
Bi B et al.
Bmc Pediatrics, 2024
Novel NUDT2 variant causes intellectual disability and polyneuropathy.
Diaz F et al.
Annals of Clinical and Translational Neurology, 2020
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