Varaico: Literature-Extracted Genetic Variants

Gene:KAT6B
Variant:p.E1681K
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KAT6B

NM_012330.4:p.E1681K

Associated Papers

Variable expressivity of a transmitted pathogenic KAT6B variant.

Rasmussen NB et al.

European Journal of Medical Genetics, 2025

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.

Zhang LX et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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