Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.L251*
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PAX2

NM_003987.5:p.L251*

Associated Papers

Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort.

Yang X et al.

Bmc Medical Genomics, 2021

Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.

Nicolaou N et al.

Kidney International, 2016

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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."