Varaico: Literature-Extracted Genetic Variants

Gene:UBTF
Variant:p.R443*
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UBTF

NM_014233.4:p.R443*

Associated Papers

Frameshift variants in the UBTF gene are associated with neurodevelopmental disorders.

Yi S et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026

UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression.

Wang X et al.

Journal of Medical 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."