Research Project

Project Title:	Dominant inheritance of R394 variants in ATP6V1B1
Project Type:	Observational Study, Enrolment terminated
Disease group(s):	Tubulopathies
Project Summary:	Assessment of pathogenicity of heterozygous variants in ATP6V1B1 affecting Arg394 in patients with dRTA.
Lead principal investigator(s):	Francesco Emma, Rome Detlef Bockenhauer, Leuven
Project Period:	11/2023 - 04/2024