Varaico: Literature-Extracted Genetic Variants

Gene:COL17A1
Variant:p.S1300delFs
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COL17A1

NM_000494.4:p.S1300delFs

Associated Papers

Gene editing for collagen disorders: current advances and future perspectives.

Kocsy K et al.

Gene Therapy, 2025

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

Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa.

Bischof J et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2022

COL17A1 editing via homology-directed repair in junctional epidermolysis bullosa.

Petković I et al.

Frontiers in Medicine, 2022

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