Associated Papers
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities.
Gabillard-Lefort C et al.
American Journal of Human Genetics, 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_Materials.docx
Functional Studies of Genetic Variants Associated with Human Diseases in Notch Signaling-Related Genes Using Drosophila.
Yang SA et al.
Methods in Molecular Biology (clifton, N.j.), 2022
TM2D3 rs675436 or FGFR2 rs755793 polymorphisms and susceptibility to Epstein-Barr virus-associated tumors in Chinese Han population.
Zhang Q et al.
Journal of Medical Virology, 2018
Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease.
Jakobsdottir J et al.
Plos Genetics, 2016
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