Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D1
Variant:p.N215fs
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TBC1D1

NM_001396959.1:p.N215fs

Associated Papers

Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).

Kosfeld A et al.

Human Genetics, 2016

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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."