Varaico: Literature-Extracted Genetic Variants

Gene:EP300
Variant:p.R1831_M1832delins
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EP300

NM_001429.4:p.R1831_M1832delins

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: mmc3.xlsx › ACMG_MA

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

Levy MA et al.

Hgg Advances, 2022

35047860 (PubMed )
Supplement: mmc2.xlsx › Table_S1_samples
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