Varaico: Literature-Extracted Genetic Variants

Gene:KMT2E
Variant:p.D1022H
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KMT2E

NM_182931.3:p.D1022H

Associated Papers

Clinical Characteristics and Genotype-Phenotype Correlation in Children with KMT2E Gene-Related Neurodevelopmental Disorders: Report of Two New Cases and Review of Published Literature.

Sharawat IK et al.

Neuropediatrics, 2021

Case Report: De novo Variants of KMT2E Cause O'Donnell-Luria-Rodan Syndrome: Additional Cases and Literature Review.

Li Y et al.

Frontiers in Pediatrics, 2021

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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."