Associated Papers
A Rare Missense Variant in TNPO2 in an Individual With a Neurodevelopmental Disability.
Cohen R et al.
American Journal of Medical Genetics. Part A, 2025
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
A new Karyopherin-β2 binding PY-NLS epitope of HNRNPH2 is linked to neurodevelopmental disorders.
Gonzalez A et al.
Biorxiv : the Preprint Server for Biology, 2023
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