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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAX2

Variant:p.N188S

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PAX2

NM_000278.5:p.N188S

hg38:chr10:100781312 A>G

Associated Papers

Clinical Characteristics and Genetic Variants in Children with PAX2 Mutation-Associated Disorders.

Jin Y et al.

Medicina (kaunas, Lithuania), 2025

40572647 (PubMed )

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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."