Varaico: Literature-Extracted Genetic Variants

Gene:COL17A1
Variant:p.S1383fs
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COL17A1

NM_000494.4:p.S1383fs

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

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.

Hany U et al.

Journal of Medical Genetics, 2024

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