Varaico: Literature-Extracted Genetic Variants

Gene:KDF1
Variant:p.R303P
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KDF1

NM_152365.3:p.R303P

Associated Papers

Genetic and phenotypic heterogeneity of tooth agenesis: An update including candidate genes.

Li W et al.

Archives of Oral Biology, 2025

Novel familial KDF1 mutation detected in members of a three-generation family with clinical manifestations of ectodermal dysplasia: A report of four cases.

Keramida C et al.

Biomedical Reports, 2025

Tooth agenesis related to a novel KDF1 variant: A case report and literature review.

Intarak N et al.

Oral Diseases, 2024

Enamel Structure Defects in Kdf1 Missense Mutation Knock-in Mice.

Li P et al.

Biomedicines, 2023

KDF1 Novel Variant Causes Unique Dental and Oral Epithelial Defects.

Yu M et al.

International Journal of Molecular Sciences, 2022

Identification of a novel missense heterozygous mutation in the KDF1 gene for non-syndromic congenital anodontia.

Pan Y et al.

Clinical Oral Investigations, 2022

A novel de novo mutation substantiates KDF1 as a gene causing ectodermal dysplasia.

Manaspon C et al.

The British Journal of Dermatology, 2019

KDF1 is a novel candidate gene of non-syndromic tooth agenesis.

Zeng B et al.

Archives of Oral Biology, 2019

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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."