Varaico: Literature-Extracted Genetic Variants

Gene:KREMEN1
Variant:p.E33fs
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KREMEN1

NM_001039570.3:p.E33fs

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

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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."