Varaico: Literature-Extracted Genetic Variants

Gene:ODAPH
Variant:p.C43*
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ODAPH

NM_178497.5:p.C43*

Associated Papers

Using computer-generated protein models to analyze mutations linked to Amelogenesis Imperfecta.

Sharmin N et al.

Plos One, 2025

A novel ODAPH mutation causing amelogenesis imperfecta and its expression in human dental tissues.

Wang SK et al.

Journal of Dental Sciences, 2024

Odontogenesis-associated phosphoprotein truncation blocks ameloblast transition into maturation in OdaphC41*/C41* mice.

Liang T et al.

Scientific Reports, 2021

Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.

Parry DA et al.

American Journal of Human Genetics, 2012

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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."