Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.

Xin ZhenMichael J Betti Meltem Ece Kars Andrew R PattersonEdgar Alejandro Medina-TorresSelma Cecilia Scheffler MendozaDiana Andrea Herrera SánchezGabriela Lopez-HerreraYevgeniya Svyryd Osvaldo M Mutchinick Eric R Gamazon Jeffrey C Rathmell Yuval Itan Janet G Markle Patricia O'Farrill Romanillos Saul Oswaldo Lugo-Reyes Ruben Martinez-Barricarte

Published in: medRxiv : the preprint server for health sciences (2024)

variants.

Keyphrases