Varaico: Literature-Extracted Genetic Variants

Gene:KAT6B
Variant:p.Q1515*
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KAT6B

NM_012330.4:p.Q1515*

Associated Papers

A Novel De Novo KAT6B Mutation Causes Hypospadias in a Chinese Fetus at 29 Weeks Gestation.

Zhong X et al.

Reproductive Sciences (thousand Oaks, Calif.), 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

Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea.

Kim BR et al.

Yonsei Medical Journal, 2019

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