Varaico: Literature-Extracted Genetic Variants

Gene:GTF3C5
Variant:p.R59S
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GTF3C5

NM_012087.4:p.R59S

Associated Papers

Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.

Iwata-Otsubo A et al.

Human Genetics, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."