Varaico: Literature-Extracted Genetic Variants

Gene:KMT2E
Variant:p.R166Splc
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KMT2E

NM_182931.3:p.R166Splc

Associated Papers

A Novel KMT2E Splicing Variant as a Cause of O'Donnell-Luria-Rodan Syndrome With West Syndrome: Expansion of the Phenotype and Genotype.

Cai Q et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025

O'Donnel-Luria-Rodan Syndrome: New gene variant identified in Romania (A case report).

Cătană A et al.

Experimental and Therapeutic Medicine, 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."