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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KMT2D

Variant:p.E86_L87ins0

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KMT2D

NM_003482.4:p.E86_L87ins0

hg38:chr12:49054668 A>AACT

Associated Papers

Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.

Bukowska-Olech E et al.

Frontiers in Molecular Biosciences, 2022

35591945 (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."