Associated Papers
Compound heterozygous variants of THG1L result in autosomal recessive cerebellar ataxia.
Han R et al.
Journal of Human Genetics, 2023
Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population.
Rabin R et al.
American Journal of Medical Genetics. Part A, 2021
Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.
Almontashiri NAM et al.
Scientific Reports, 2020
32523032 (PubMed )
Supplement: 41598_2020_66401_MOESM4_ESM.xlsx › Table_S3
Select a paper to view details