Characterizing a rare neurogenetic disease, SLC13A5 citrate transporter disorder, utilizing clinical data in a cloud-based medical record collection system

Introduction: SLC13A5 citrate transporter disorder is a rare autosomal recessive genetic disease that has a constellation of neurologic symptoms. To better characterize the neurologic and clinical laboratory phenotype, we utilized patient medical records collected by Ciitizen, an Invitae company, wi...

Descripción completa

Detalles Bibliográficos
Autores principales: Spelbrink, Emily M., Brown, Tanya L., Brimble, Elise, Blanco, Kirsten A., Nye, Kimberly L., Porter, Brenda E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10072280/
https://www.ncbi.nlm.nih.gov/pubmed/37025451
http://dx.doi.org/10.3389/fgene.2023.1109547

Ejemplares similares

Ejemplares similares