Varaico: Literature-Extracted Genetic Variants

Gene:KMT2B
Variant:p.P819L
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KMT2B

NM_014727.3:p.P819L

Associated Papers

Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.

Zou H et al.

Frontiers in Genetics, 2024

39906551 (PubMed )
Supplement: Table1.xlsx › Table_S1

Exome sequencing identifies three novel candidate genes implicated in intellectual disability.

Agha Z et al.

Plos One, 2014

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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."