Varaico: Literature-Extracted Genetic Variants

Gene:KMT2E
Variant:p.E592_R594delFs
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KMT2E

NM_182931.3:p.E592_R594delFs

Associated Papers

Genotype-phenotype correlation of ODLURO syndrome comorbid epilepsy associated with KMT2E variations: Report on a novel case and systematic literature review.

Zhu S et al.

Epilepsy & Behavior : E&b, 2025

Case Report: A Novel KMT2E Splice Site Variant as a Cause of O'Donnell-Luria-Rodan Syndrome in a Male Patient.

Cao Z et al.

Frontiers in Pediatrics, 2022

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

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

O'Donnell-Luria AH et al.

American Journal of Human Genetics, 2019

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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."