Varaico: Literature-Extracted Genetic Variants

Gene:KDM6A
Variant:p.Y119*
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KDM6A

NM_001291415.2:p.Y119*

Associated Papers

Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.

Berg T et al.

Neoplasia (new York, N.y.), 2025

40121945 (PubMed )
Supplement: mmc5.xlsx › Ark1

Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.

Faundes V et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33674768 (PubMed )
Supplement: 41436_2021_1119_MOESM2_ESM.xlsx › S1

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.

Yap KL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".

Yap KL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."