EPISODE · Apr 28, 2022 · 3 MIN
Shortcast: A serendipitous journey to a promoter variant in OTC
from JIMD Podcasts · host Journal of Inherited Metabolic Disease
Ashley Hertzog discusses the identification of an unexpected promoter variant as a cause of late-onset OTC deficiency. A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency Ashley Hertzog, et al https://doi.org/10.1002/jmd2.12289
NOW PLAYING
Shortcast: A serendipitous journey to a promoter variant in OTC
No transcript for this episode yet
Similar Episodes
Jun 15, 2022 ·8m
May 25, 2022 ·20m
May 19, 2022 ·16m
May 15, 2022 ·34m
May 12, 2022 ·1m