Varaico: Literature-Extracted Genetic Variants

Gene:RELT
Variant:p.T55I
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RELT

NM_152222.2:p.T55I

Associated Papers

Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci.

Hany U et al.

Human Mutation, 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

New missense variants in RELT causing hypomineralised amelogenesis imperfecta.

Nikolopoulos G et al.

Clinical Genetics, 2020

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