Varaico: Literature-Extracted Genetic Variants

Gene:KDM6A
Variant:p.V139L
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KDM6A

NM_001291415.2:p.V139L

Associated Papers

Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.

Luperchio TR et al.

Molecular Genetics & Genomic Medicine, 2020

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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."