Varaico: Literature-Extracted Genetic Variants

Gene:EHMT1
Variant:p.C1068S
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EHMT1

NM_024757.5:p.C1068S

Associated Papers

The Epigenetic Machinery and Energy Expenditure: A Network to Be Revealed.

Prada E et al.

Genes, 2025

39858651 (PubMed )
Supplement: genes-16-00104-s001.zip › genes-3365858-supplementary.pdf

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Rots D et al.

American Journal of Human Genetics, 2024

Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery.

Aleo S et al.

Frontiers in Cell and Developmental Biology, 2020

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