Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D8B
Variant:p.W461*
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TBC1D8B

NM_017752.3:p.W461*

Associated Papers

Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.

Schneider R et al.

Genes & Diseases, 2025

39584075 (PubMed )
Supplement: mmc2.pdf

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."