Varaico: Literature-Extracted Genetic Variants

Gene:KAT6B
Variant:p.V1287_T1288delFs
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KAT6B

NM_012330.4:p.V1287_T1288delFs

Associated Papers

KAT6B overexpression in mice causes aggression, anxiety, and epilepsy.

Bergamasco MI et al.

Iscience, 2025

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

32424177 (PubMed )
Supplement: 1-s2.0-S1098360021006924-mmc1.xlsx › TS1._New_cohort_sequencing
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