Varaico: Literature-Extracted Genetic Variants

Gene:EHMT1
Variant:p.Q116*
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EHMT1

NM_024757.5:p.Q116*

Associated Papers

Genotype-phenotype correlations in 9q34.3 microdeletion syndrome: a study of 35 Mainland Chinese patients.

Yang T et al.

Orphanet Journal of Rare Diseases, 2025

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Chevarin M et al.

Journal of Medical Genetics, 2020

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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."