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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KDM6A

Variant:p.A279_D280insTT

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KDM6A

NM_001291415.2:p.A279_D280insTT

hg38:chrX:45053915 G>GNNNNNN

Associated Papers

Comparative meta-analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemia.

Hoermann H et al.

Clinical Endocrinology, 2020

32533869 (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."