PhenomeGene — Human Disease Gene Website SeriesTHG1L

Publications

Edvardson S et al. A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay. Neurogenetics. 2016;17(4):219-25. PMID: 27307223.

Rabin R et al. Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population.American Journal of Medical Genetics Part A. 2021;185(5):1589-97. PMID: 33682303.

Shaheen R et al. Genomic and phenotypic delineation of congenital microcephaly.Genetics in Medicine. 2019;21(3):545-52. PMID: 30214071.

Walker MA et al. Refining the phenotype of the THG1L (p. Val55Ala mutation)‐related mitochondrial autosomal recessive congenital cerebellar ataxia.American Journal of Medical Genetics Part A. 2019;179(8):1575-9. PMID: 31168944.