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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPTB

Variant:p.E1041delFs

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SPTB

NM_001355436.2:p.E1041delFs

hg38:chr14:64786843 TC>T

Associated Papers

Identification of novel variants in hereditary spherocytosis patients by whole-exome sequencing.

Qin L et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025

39378964 (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."