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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBC1D8B

Variant:p.K210*

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TBC1D8B

NM_017752.3:p.K210*

hg38:chrX:106823267 A>T

Associated Papers

Novel TBC1D8B variant causes neonatal nephrotic syndrome combined with acute kidney injury.

Xu Y et al.

Italian Journal of Pediatrics, 2024

39468641 (PubMed )

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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."