Varaico: Literature-Extracted Genetic Variants

Gene:KAT6A
Variant:p.K1150insFs
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KAT6A

NM_006766.5:p.K1150insFs

Associated Papers

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

Vos N et al.

Epigenomics, 2023

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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