Varaico: Literature-Extracted Genetic Variants

Gene:ACP4
Variant:p.S238L
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ACP4

NM_033068.3:p.S238L

Associated Papers

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

Sharmin N et al.

Plos One, 2025

Enamel defects in Acp4R110C/R110C mice and human ACP4 mutations.

Liang T et al.

Scientific Reports, 2022

Recessive Mutations in ACP4 Cause Amelogenesis Imperfecta.

Kim YJ et al.

Journal of Dental Research, 2022

Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.

Yoshioka H et al.

International Journal of Molecular Sciences, 2021

33672174 (PubMed )
Supplement: ijms-22-02202-s001.zip › Supplementary_Table_S4-1_Final_021921.xlsx › Table_S3.1

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta.

Smith CE et al.

European Journal of Human Genetics : Ejhg, 2017

Amelogenesis Imperfecta; Genes, Proteins, and Pathways.

Smith CEL et al.

Frontiers in Physiology, 2017

Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta.

Seymen F et al.

American Journal of Human Genetics, 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."