Associated Papers
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Masson A et al.
The Journal of Clinical Investigation, 2025
40965981 (PubMed )
Supplement: jci-135-182100-s295.xlsx › Table_S2
A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.
Chia PH et al.
Elife, 2018
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