Varaico: Literature-Extracted Genetic Variants

Gene:EHMT1
Variant:p.A50T
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EHMT1

NM_024757.5:p.A50T

Associated Papers

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Redin C et al.

Journal of Medical Genetics, 2014

25167861 (PubMed )
Supplement: jmedgenet-2014-102554-s2.pdf

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
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