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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KMT2D

Variant:p.E4039delFs

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KMT2D

NM_003482.4:p.E4039delFs

hg38:chr12:49032587 CCT>C

Associated Papers

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

Lehman N et al.

Clinical Genetics, 2017

28295206 (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."