Varaico: Literature-Extracted Genetic Variants

Gene:PLCE1
Variant:p.N1984del1
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PLCE1

NM_016341.4:p.N1984del1

Associated Papers

Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.

Schneider R et al.

Genes & Diseases, 2025

39584075 (PubMed )
Supplement: mmc2.pdf

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

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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."