Varaico: Literature-Extracted Genetic Variants

Gene:SPTB
Variant:p.Q1521_T1522Splc
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SPTB

NM_001355436.2:p.Q1521_T1522Splc

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

Revisiting the morbid genome of Mendelian disorders.

Abouelhoda M et al.

Genome Biology, 2016

27884173 (PubMed )
Supplement: 13059_2016_1102_MOESM1_ESM.pdf

Siblings with severe pyruvate kinase deficiency and a complex genotype.

Christensen RD et al.

American Journal of Medical Genetics. Part A, 2016

Causes of hemolysis in neonates with extreme hyperbilirubinemia.

Christensen RD et al.

Journal of Perinatology : Official Journal of the California Perinatal Association, 2014

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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."