Varaico: Literature-Extracted Genetic Variants

Gene:GTF3C3
Variant:p.Y479C
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GTF3C3

NM_012086.5:p.Y479C

Associated Papers

Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.

De Hayr L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish.

Abdel-Hamid MS et al.

Brain Communications, 2025

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

Reuter MS et al.

Jama Psychiatry, 2017

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