Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.L971delFs
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F8

NM_000132.4:p.L971delFs

Associated Papers

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.

Hany U et al.

Journal of Medical Genetics, 2024

37979963 (PubMed )
Supplement: jmg-2023-109510supp002.pdf
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