Varaico: Literature-Extracted Genetic Variants

Gene:EHMT1
Variant:p.P1099A
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EHMT1

NM_024757.5:p.P1099A

Associated Papers

A multi-layered computational structural genomics approach enhances domain-specific interpretation of Kleefstra syndrome variants in EHMT1.

Chi YI et al.

Computational and Structural Biotechnology Journal, 2023

37954151 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

Jiang YH et al.

American Journal of Human Genetics, 2013

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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