Varaico: Literature-Extracted Genetic Variants

Gene:EHMT1
Variant:p.T117T
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EHMT1

NM_024757.5:p.T117T

Associated Papers

High throughput single cell long-read sequencing analyses of same-cell genotypes and phenotypes in human tumors.

Shiau CK et al.

Nature Communications, 2023

37433798 (PubMed )
Supplement: 41467_2023_39813_MOESM3_ESM.zip › Supplementary_Data › Supplementary_Data8_Tumor_cell_expanded_mutations.xlsx › Supplemental_Data_8

Rearrangement of a polar core provides a conserved mechanism for constitutive activation of class B G protein-coupled receptors.

Yin Y et al.

The Journal of Biological Chemistry, 2017

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

Kleefstra T et al.

American Journal of Human Genetics, 2006

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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."