Varaico: Literature-Extracted Genetic Variants

Gene:KMT2B
Variant:p.A4_G8insFs
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KMT2B

NM_014727.3:p.A4_G8insFs

Associated Papers

Diagnostic utility of DNA methylation episignature analysis for early diagnosis of KMT2B-related disorders: case report.

Bouhamdani N et al.

Frontiers in Genetics, 2024

Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.

Montano C et al.

Journal of Inherited Metabolic Disease, 2022

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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."