Award
NIH Reporter #5U24HD108087-03
Expert curation of sequence variants in the proximal urea cycle genes
Recipient
Children's Research Institute
Awarded
April 28, 2025
Identifier
5U24HD108087-03
Award for expert curation of genetic variants in urea cycle genes to enhance diagnosis and clinical actionability, funded by NIH.
Description
This project involves expert curation of genetic variants related to urea cycle disorders, aiming to improve diagnosis and clinical actionability. The project is funded by NIH and involves collaboration among genetic counselors, researchers, and the Urea Cycle Disorders Consortium.