Varaico: Literature-Extracted Genetic Variants

Gene:EP300
Variant:p.C1670Y
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EP300

NM_001429.4:p.C1670Y

Associated Papers

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

Haghshenas S et al.

Hgg Advances, 2024

38553851 (PubMed )
Supplement: mmc2.xlsx › Blad1

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.

Sadikovic B et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33547396 (PubMed )
Supplement: 41436_2020_1096_MOESM2_ESM.xlsx › Validation
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