Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.T75_G76insFs
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PAX2

NM_000278.5:p.T75_G76insFs

Associated Papers

A novel truncating PAX2 mutation in a boy with renal coloboma syndrome with focal segmental glomerulosclerosis causing rapid progression to end-stage kidney disease.

Saida K et al.

Cen Case Reports, 2020

New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature.

Zhang L et al.

Bmc Nephrology, 2018

Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome.

Okumura T et al.

Plos One, 2015

Developmental Causes of Focal Segmental Glomerulosclerosis.

Klomp LS et al.

Glomerular Diseases, 0

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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."