Varaico: Literature-Extracted Genetic Variants

Gene:WT1
Variant:p.R394L
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WT1

NM_024426.6:p.R394L

Associated Papers

Generation of a human iPSC line (MPIi008-A) from a patient with Denys-Drash syndrome.

Doeser MC et al.

Stem Cell Research, 2022

Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.

Cil O et al.

Pediatric Nephrology (berlin, Germany), 2015

Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations.

Chernin G et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2010

Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development.

Royer-Pokora B et al.

American Journal of Medical Genetics. Part A, 2004

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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."