Varaico: Literature-Extracted Genetic Variants

Gene:KCTD15
Variant:p.D104H
Back to variants list

KCTD15

NM_001129994.2:p.D104H

Associated Papers

Aplasia Cutis Congenita Pathomechanisms Reveal Key Regulators of Skin and Skin Appendage Morphogenesis.

Marneros AG

The Journal of Investigative Dermatology, 2024

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

Miller KA et al.

Journal of Medical Genetics, 2024

KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis.

Raymundo JR et al.

The Journal of Clinical Investigation, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."