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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRIT1

Variant:p.R452_L453insFs

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KRIT1

NM_194454.3:p.R452_L453insFs

hg38:chr7:92222874 G>GAGAC

Associated Papers

Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights.

Li X et al.

Frontiers in Genetics, 2024

39959857 (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."