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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KAT6B

Variant:p.V1611delFs

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KAT6B

NM_012330.4:p.V1611delFs

hg38:chr10:75029654 CG>C

Associated Papers

DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants.

Vos N et al.

Epigenomics, 2023

37249002 (PubMed )

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