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neurodevelopmental-disorder
3Documents about neurodevelopmental-disorder
Documents about neurodevelopmental-disorder
- Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder#26230HAL (France)
- De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy#284382HAL (France)
- Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants#291663HAL (France)
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