Varaico: Literature-Extracted Genetic Variants

Gene:KMT2E
Variant:p.K961delFs
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KMT2E

NM_182931.3:p.K961delFs

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

Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort.

Vecchio D et al.

European Journal of Medical Genetics, 2025

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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."