Varaico: Literature-Extracted Genetic Variants

Gene:EHMT1
Variant:p.G121D
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EHMT1

NM_024757.5:p.G121D

Associated Papers

Kleefstra-variant syndrome with heterozygous mutations in EHMT1 and KCNQ2 genes: a case report.

Marchese G et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2016

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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."