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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL17A1

Variant:p.P796delFs

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COL17A1

NM_000494.4:p.P796delFs

hg38:chr10:104045767 CT>C

Associated Papers

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.

Bloch-Zupan A et al.

Frontiers in Physiology, 2023

37228816 (PubMed )

Supplement: Table3.xlsx › Isolated

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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."