PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
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Masson A, et al. Among authors: bourgeois v.
J Clin Invest. 2025 Sep 18:e182100. doi: 10.1172/JCI182100. Online ahead of print.
J Clin Invest. 2025.
PMID: 40965981
Free article.