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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMAD7

Variant:p.L110del1

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SMAD7

NM_005904.4:p.L110del1

hg38:chr18:48950089 GAGC>G

Associated Papers

Constitutional PIGA mutations cause a novel subtype of hemochromatosis in patients with neurologic dysfunction.

Muckenthaler L et al.

Blood, 2022

34875027 (PubMed )

Supplement: mmc1.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."