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
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.
Cochran JN et al.
Cold Spring Harbor Molecular Case Studies, 2019
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