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
Transcription-translation error: In-silico investigation of the structural and functional impact of deleterious single nucleotide polymorphisms in GULP1 gene.
Soremekun OS et al.
Informatics in Medicine Unlocked, 2021
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