Varaico: Literature-Extracted Genetic Variants

Gene:KCTD15
Variant:p.G88D
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KCTD15

NM_001129994.2:p.G88D

Associated Papers

A BTB extension and ion-binding domain contribute to the pentameric structure and TFAP2A binding of KCTD1.

Pinkas DM et al.

Structure (london, England : 1993), 2024

BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.

Miller KA et al.

Journal of Medical Genetics, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."