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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CREBBP

Variant:p.P2369T

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CREBBP

NM_004380.3:p.P2369T

hg38:chr16:3727942 G>T

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 )

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