Varaico: Literature-Extracted Genetic Variants

Gene:KAT6B
Variant:p.D1284_T1288delFs
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KAT6B

NM_012330.4:p.D1284_T1288delFs

Associated Papers

Genitopatellar Syndrome With a Novel Variant in the KAT6B Gene: Supporting Spectrum Delineation.

Back W et al.

Cureus, 2024

Clinical heterogeneity of polish patients with KAT6B-related disorder.

Klaniewska M et al.

Molecular Genetics & Genomic Medicine, 2023

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