Varaico: Literature-Extracted Genetic Variants

Gene:RELT
Variant:p.P390delFs
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RELT

NM_152222.2:p.P390delFs

Associated Papers

[Frameshift mutation in RELT gene causes amelogenesis imperfecta].

Zhang Z et al.

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2025

Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta.

Resende KKM et al.

European Journal of Human Genetics : Ejhg, 2023

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

New missense variants in RELT causing hypomineralised amelogenesis imperfecta.

Nikolopoulos G et al.

Clinical Genetics, 2020

Mutations in RELT cause autosomal recessive amelogenesis imperfecta.

Kim JW et al.

Clinical Genetics, 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."