Human variants in the neuronal basic helix-loop-helix/Per-Arnt-Sim (bHLH/PAS) transcription factor complex NPAS4/ARNT2 disrupt function.

par David C Bersten, John B Bruning, Daniel J Peet, Murray L Whitelaw
Publié 2014

Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders

par Joseph J. Rossi, Jill A. Rosenfeld, Katie M. Chan, Haley Streff, Victoria Nankivell, Daniel J. Peet, Murray L. Whitelaw, David C. Bersten
Publié 2021