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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPTB

Variant:p.G808E

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SPTB

NM_001355436.2:p.G808E

hg38:chr14:64793240 C>T

Associated Papers

Hereditary stomatocytosis in the general population: A genetically based prevalence estimate from a 109 039 individual Danish cohort.

Mottelson M et al.

American Journal of Hematology, 2025

39400415 (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."