Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D2B
Variant:p.E627delFs
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TBC1D2B

NM_144572.2:p.E627delFs

Associated Papers

A Novel Homozygous TBC1D2B Variant Disrupts Functional Domains and Suggests Impaired Rab-GTPase Regulation in Neurodevelopmental Disorder.

Ozturk M et al.

Developmental Neurobiology, 2025

Genetic Variants in the TBC1D2B Gene Are Associated with Ramon Syndrome and Hereditary Gingival Fibromatosis.

Kularbkaew T et al.

International Journal of Molecular Sciences, 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."