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
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
Riazuddin S et al.
Molecular Psychiatry, 2017
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