Varaico: Literature-Extracted Genetic Variants

Gene:HBS1L
Variant:p.Q223*
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HBS1L

NM_006620.4:p.Q223*

Associated Papers

Nine known and five novel mutations in the erythroid transcription factor KLF1 gene and phenotypic expression of fetal hemoglobin in hemoglobin E disorder.

Tepakhan W et al.

Blood Cells, Molecules & Diseases, 2016

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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."