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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CREBBP

Variant:p.A1164P

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CREBBP

NM_004380.3:p.A1164P

hg38:chr16:3757928 C>G

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

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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."