Varaico: Literature-Extracted Genetic Variants

Gene:SPTB
Variant:p.I1620I
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SPTB

NM_001355436.2:p.I1620I

Associated Papers

Two Variants of the ANK1 Gene Associated with Hereditary Spherocytosis.

Bogusławska DM et al.

Biomedicines, 2025

40002721 (PubMed )
Supplement: biomedicines-13-00308-s001.zip › biomedicines-3431635_Additional_file_2-xml.xlsx › AM_membranopathies

Preliminary Study on the Clinical and Genetic Characteristics of Hereditary Spherocytosis in 15 Chinese Children.

Wu C et al.

Frontiers in Genetics, 2021

33868383 (PubMed )
Supplement: Presentation_5.pdf

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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