Varaico: Literature-Extracted Genetic Variants

Gene:EHMT1
Variant:p.R246*
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EHMT1

NM_024757.5:p.R246*

Associated Papers

Diagnostic Approach to Children with Unexplained Global Developmental Delay in Pediatric Neurology Outpatient Clinic.

Veronese A et al.

Neuropediatrics, 2025

39374907 (PubMed )
Supplement: 10-1055-a-2430-0494-s0520243803oa.pdf

Corrigendum: Diagnostic Approach to Children with Unexplained Global Developmental Delay in Pediatric Neurology Outpatient Clinic.

Veronese A et al.

Neuropediatrics, 2025

Clinical phenotypes and molecular findings in ten Chinese patients with Kleefstra Syndrome Type 1 due to EHMT1 defects.

Huang Q et al.

European Journal of Medical Genetics, 2021

Mutation signatures of pediatric acute myeloid leukemia and normal blood progenitors associated with differential patient outcomes.

Brandsma AM et al.

Blood Cancer Discovery, 2021

34642666 (PubMed )
Supplement: bloodcandisc-2-484-s002.xlsx › ST1
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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."