Varaico: Literature-Extracted Genetic Variants

Gene:PLCE1
Variant:p.R1057*
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PLCE1

NM_016341.4:p.R1057*

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

Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Witkiewicz AK et al.

Nature Communications, 2015

25855536 (PubMed )
Supplement: ncomms7744-s2.xlsx › MUTATIONS_ALL_CASES
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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."