Varaico: Literature-Extracted Genetic Variants

Gene:EHMT1
Variant:p.K390_M391Splc
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EHMT1

NM_024757.5:p.K390_M391Splc

Associated Papers

VEXAS syndrome caused by a UBA1 mutation is complicated by recurrent infections leading to hemophagocytic lymphohistiocytosis.

Tang Y et al.

Genes & Diseases, 2025

40416428 (PubMed )
Supplement: mmc1.docx

Gene copy number variation and pediatric mental health/neurodevelopment in a general population.

Zarrei M et al.

Human Molecular Genetics, 2023

37154571 (PubMed )
Supplement: hmg-2023-ce-00137_scherer_supplementary_materials_ddad074.pdf

Identification of a rare variant in CHD8 that contributes to schizophrenia and autism spectrum disorder susceptibility.

Kimura H et al.

Schizophrenia Research, 2016

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