Varaico: Literature-Extracted Genetic Variants

Gene:EHMT1
Variant:p.D35N
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EHMT1

NM_024757.5:p.D35N

Associated Papers

Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.

Aspromonte MC et al.

Human Genetics, 2025

KBG syndrome: report and follow-up on three unrelated patients observed at different ages.

Serra G et al.

Italian Journal of Pediatrics, 2025

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Zhou X et al.

Nature Genetics, 2022

35982159 (PubMed )
Supplement: 41588_2022_1148_MOESM6_ESM.xlsx › SupplementaryData2_ASD_Rep_DNVs

High-resolution structure of the human GPR40 receptor bound to allosteric agonist TAK-875.

Srivastava A et al.

Nature, 2014

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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."