Varaico: Literature-Extracted Genetic Variants

Gene:SPTB
Variant:p.A1547A
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SPTB

NM_001355436.2:p.A1547A

Associated Papers

Identification of a novel de novo ANK1 R1426* nonsense mutation in a Chinese family with hereditary spherocytosis by NGS.

Wang X et al.

Oncotarget, 2017

29228571 (PubMed )
Supplement: oncotarget-08-96791-s002.xlsx › Sheet1

Diagnosis of Hereditary Spherocytosis and Secondary Hemochromatosis in a Patient with Jaundice.

Gao Y et al.

Acta Haematologica, 0

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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."