Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D14
Variant:p.P296R
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TBC1D14

NM_020773.3:p.P296R

Associated Papers

Defective C3d caused by C3 p.W1034R in inherited atypical hemolytic uremic syndrome.

Tsuchida M et al.

Molecular Genetics & Genomic Medicine, 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."