Varaico: Literature-Extracted Genetic Variants

Gene:LRRC15
Variant:p.L185V
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LRRC15

NM_130830.5:p.L185V

Associated Papers

Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum.

Williams SE et al.

Human Molecular Genetics, 2009

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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."