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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPTB

Variant:p.V2020fs

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SPTB

NM_001355436.2:p.V2020fs

hg38:chr14:64767824 CAC>N

Associated Papers

A novel SPTB frameshift deletion causing hereditary spherocytosis identified by next-generation sequencing in a Chinese family.

Zhao RQ et al.

International Journal of Laboratory Hematology, 2021

33974364 (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."