Varaico: Literature-Extracted Genetic Variants

Gene:SPTB
Variant:p.Q1166*
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SPTB

NM_001355436.2:p.Q1166*

Associated Papers

Understanding the genetic architecture and phenotypic landscape of SPTB gene variants causing hereditary spherocytosis in an Indian cohort.

More TA et al.

Human Genetics, 2025

Facilitating EMA binding test performance using fluorescent beads combined with next-generation sequencing.

Glenthøj A et al.

Ejhaem, 2021

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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."