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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CREBBP

Variant:p.S889fs

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CREBBP

NM_004380.3:p.S889fs

hg38:chr16:3770785 TGA>N

Associated Papers

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

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.

Van Gils J et al.

Genes, 2021

34202860 (PubMed )

Supplement: genes-12-00968-s001.zip › genes-1248377-supplementary.pdf

Select a paper to view details

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