Varaico: Literature-Extracted Genetic Variants

Gene:EHMT1
Variant:p.A275T
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EHMT1

NM_024757.5:p.A275T

Associated Papers

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

Rots D et al.

American Journal of Human Genetics, 2024

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.

Li K et al.

Ebiomedicine, 2024

38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S3

GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification.

Lagou V et al.

Nature Genetics, 2023

37679419 (PubMed )
Supplement: 41588_2023_1462_MOESM6_ESM.xlsx › SuppTable12

Exon resequencing of H3K9 methyltransferase complex genes, EHMT1, EHTM2 and WIZ, in Japanese autism subjects.

Balan S et al.

Molecular Autism, 2014

25400900 (PubMed )
Supplement: 13229_2014_145_MOESM4_ESM.xlsx › Table_S4

Molecular dynamics and mutational analysis of the catalytic and translocation cycle of RNA polymerase.

Kireeva ML et al.

Bmc Biophysics, 2012

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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."