Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.L44V
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PAX2

NM_000278.5:p.L44V

Associated Papers

Clinical application of prospective whole-exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea.

Lee JY et al.

Annals of Human Genetics, 2024

A Novel Missense Mutation (L44V) of PAX2 Associated with Adult-Onset End-Stage Renal Disease and No Syndromic Features.

Oh SH et al.

Annals of Clinical and Laboratory Science, 2020

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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."