Associated Papers
Compound heterozygous variants of THG1L result in autosomal recessive cerebellar ataxia.
Han R et al.
Journal of Human Genetics, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
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
Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.
Walker MA et al.
American Journal of Medical Genetics. Part A, 2019
Genomic and phenotypic delineation of congenital microcephaly.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30214071 (PubMed )
Supplement: NIHMS1061370-supplement-1061370_Sup_MOESM2.xlsx › Sheet1
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