Varaico: Literature-Extracted Genetic Variants

Gene:RELT
Variant:p.P390fs
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RELT

NM_152222.2:p.P390fs

Associated Papers

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

Resende KKM et al.

European Journal of Human Genetics : Ejhg, 2023

Mutations in RELT cause autosomal recessive amelogenesis imperfecta.

Kim JW et al.

Clinical Genetics, 2019

30506946 (PubMed )
Supplement: CGE-95-375-s001.pdf
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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."