Varaico: Literature-Extracted Genetic Variants

Gene:COL17A1
Variant:p.S1308delFs
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COL17A1

NM_000494.4:p.S1308delFs

Associated Papers

Genetic Implications and Management of Epidermolysis Bullosa in the Saudi Arabian Population.

Shehata NA et al.

Cureus, 2024

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.

Hany U et al.

Journal of Medical Genetics, 2024

37979963 (PubMed )
Supplement: jmg-2023-109510supp001.pdf

Genetic Profile of Epidermolysis Bullosa Cases in King Abdulaziz Medical City, Riyadh, Saudi Arabia.

Alharthi R et al.

Frontiers in Genetics, 2021

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