Varaico: Literature-Extracted Genetic Variants

Gene:PLCE1
Variant:p.Q1616*
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PLCE1

NM_016341.4:p.Q1616*

Associated Papers

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

Sadowski CE et al.

Journal of the American Society of Nephrology : Jasn, 2015

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.

Hinkes B et al.

Nature Genetics, 2006

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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."