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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADAM17

Variant:p.I44insFs

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ADAM17

NM_003183.6:p.I44insFs

hg38:chr2:9543250 G>GAA

Associated Papers

Neonatal Inflammatory Skin and Bowel Disease 1 (NISBD1): A Case of ADAM17 Homozygous Mutation.

Chang HR et al.

Pediatric Dermatology, 2025

40968583 (PubMed )

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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."