Varaico: Literature-Extracted Genetic Variants

Gene:WT1
Variant:p.P129L
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WT1

NM_024426.6:p.P129L

Associated Papers

Autosomal single-gene disorders involved in human infertility.

Jedidi I et al.

Saudi Journal of Biological Sciences, 2018

Gene mutations associated with anomalies of human gonad formation.

Bashamboo A et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2013

WT1 and Sox11 regulate synergistically the promoter of the Wnt4 gene that encodes a critical signal for nephrogenesis.

Murugan S et al.

Experimental Cell Research, 2012

WT1 induces apoptosis through transcriptional regulation of the proapoptotic Bcl-2 family member Bak.

Morrison DJ et al.

Cancer Research, 2005

The receptor tyrosine kinase regulator Sprouty1 is a target of the tumor suppressor WT1 and important for kidney development.

Gross I et al.

The Journal of Biological Chemistry, 2003

Tumor-associated WT1 missense mutants indicate that transcriptional activation by WT1 is critical for growth control.

English MA et al.

The Journal of Biological Chemistry, 1999

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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."