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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:F3

Variant:p.K181_I184delFs

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F3

NM_001993.5:p.K181_I184delFs

hg38:chr1:94533130 ATTAAGTCCTT>A

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."