Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D8B
Variant:p.T779S
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TBC1D8B

NM_017752.3:p.T779S

Associated Papers

Nephrotic Syndrome Gene TBC1D8B Is Required for Endosomal Maturation and Nephrin Endocytosis in Drosophila.

Milosavljevic J et al.

Journal of the American Society of Nephrology : Jasn, 2022

TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome.

Kampf LL et al.

Journal of the American Society of Nephrology : Jasn, 2019

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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."