Varaico: Literature-Extracted Genetic Variants

Gene:PLCE1
Variant:p.I1081M
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PLCE1

NM_016341.4:p.I1081M

Associated Papers

The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.

Vincent AE et al.

Scientific Reports, 2016

27506553 (PubMed )
Supplement: srep30610-s1.pdf

Progress in pathogenesis of proteinuria.

Zhang A et al.

International Journal of Nephrology, 2012

Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review.

Löwik MM et al.

European Journal of Pediatrics, 2009

Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis.

Löwik M et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2008

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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."