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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SAMD9L

Variant:p.I332insFs

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SAMD9L

NM_152703.5:p.I332insFs

hg38:chr7:93134977 A>AT

Associated Papers

Thrombotic microangiopathy in adult with SAMD9L-associated autoinflammatory disease: a case report of a novel SAMD9L variant.

Boncukcuoğlu AE et al.

Rheumatology (oxford, England), 2025

41137672 (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."