Varaico: Literature-Extracted Genetic Variants

Gene:TMEM67
Variant:p.D359E
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TMEM67

NM_153704.6:p.D359E

Associated Papers

Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans.

Lange KI et al.

Human Molecular Genetics, 2022

Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes.

Dong B et al.

Bmc Nephrology, 2020

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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."