Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.V26G
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PAX2

NM_000278.5:p.V26G

Associated Papers

Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review.

Hu X et al.

Molecular Genetics & Genomic Medicine, 2024

Familial focal segmental glomerulosclerosis with Alport-like glomerular basement changes caused by paired box protein 2 gene variant.

Yamada Y et al.

Cen Case Reports, 2024

Detection of De Novo PAX2 Variants and Phenotypes in Chinese Population: A Single-Center Study.

Xiong HY et al.

Frontiers in Genetics, 2022

FSGS in Chinese twins with a de novo PAX2 mutation: a case report and review of the literature.

Hu R et al.

Journal of Nephrology, 2021

Alport-like glomerular basement membrane changes with renal-coloboma syndrome.

Ohtsubo H et al.

Pediatric Nephrology (berlin, Germany), 2012

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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."