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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KDM6A

Variant:p.V139insFs

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KDM6A

NM_001291415.2:p.V139insFs

hg38:chrX:45010989 T>TG

Associated Papers

Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses.

Männistö JME et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

39078990 (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."