Associated Papers
Variable expressivity of a transmitted pathogenic KAT6B variant.
Rasmussen NB et al.
European Journal of Medical Genetics, 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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