Varaico: Literature-Extracted Genetic Variants

Gene:KAT6B
Variant:p.E1370insFs
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KAT6B

NM_012330.4:p.E1370insFs

Associated Papers

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 › TS4._Review_of_published_cases

Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?

Lonardo F et al.

Clinical Genetics, 2019

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