Varaico: Literature-Extracted Genetic Variants

Gene:KMT2E
Variant:p.P1376L
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KMT2E

NM_182931.3:p.P1376L

Associated Papers

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."