Varaico: Literature-Extracted Genetic Variants

Gene:KDM6A
Variant:p.S739insFs
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KDM6A

NM_001291415.2:p.S739insFs

Associated Papers

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
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