Varaico: Literature-Extracted Genetic Variants

Gene:SPTB
Variant:p.K1037insFs
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SPTB

NM_001355436.2:p.K1037insFs

Associated Papers

A novel variant in the SPTB gene underlying hereditary spherocytosis and a literature review of previous variants.

Wang Y et al.

Bmc Medical Genomics, 2024

Mutational Characteristics of Causative Genes in Chinese Hereditary Spherocytosis Patients: a Report on Fourteen Cases and a Review of the Literature.

Wang D et al.

Frontiers in Pharmacology, 2021

34335240 (PubMed )
Supplement: Table1.DOCX

Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis.

Wang R et al.

Science China. Life Sciences, 2018

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