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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KMT2B

Variant:p.R1834insFs

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KMT2B

NM_014727.3:p.R1834insFs

hg38:chr19:35731971 G>GT

Associated Papers

Detection of Modified Histones from Oral Mucosa of a Patient with DYT-KMT2B Dystonia.

Sugeno N et al.

Molecular Syndromology, 2023

38108041 (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."