Varaico: Literature-Extracted Genetic Variants

Gene:KREMEN1
Variant:p.F209S
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KREMEN1

NM_001039570.3:p.F209S

Associated Papers

KREMEN1 Variants Associated with Ectodermal Dysplasia Impair Complex Formation of KREMEN1 with DKK1 and LRP6 and Attenuate WNT3A Response.

Rosen N et al.

The Journal of Investigative Dermatology, 2026

Novel homozygous KREMEN1 mutation causes ectodermal dysplasia.

Lee Y et al.

Oral Diseases, 2022

Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia.

Intarak N et al.

The British Journal of Dermatology, 2018

The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis.

Williams MA et al.

Genes, 2018

Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis.

Dinckan N et al.

Journal of Dental Research, 2018

Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families.

Issa YA et al.

European Journal of Human Genetics : Ejhg, 2016

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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."