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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADAM17

Variant:p.P629_C630delFs

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ADAM17

NM_003183.6:p.P629_C630delFs

hg38:chr2:9494662 CAG>C

Associated Papers

Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease.

Kubo S et al.

Nature Immunology, 2022

34937930 (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."