Varaico: Literature-Extracted Genetic Variants

Gene:KIF23
Variant:p.S916*
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KIF23

NM_001367805.3:p.S916*

Associated Papers

Benign clinical phenotype of co-inherited congenital dyserythropoietic anaemia type I and heterozygous haemoglobin Lepore.

Li EW et al.

European Journal of Haematology, 2023

The congenital dyserythropoieitic anemias: genetics and pathophysiology.

King R et al.

Current Opinion in Hematology, 2022

Differential tissue specific expression of Kif23 alternative transcripts in mice with the human mutation causing congenital dyserythropoietic anemia type III.

Vikberg AL et al.

Blood Cells, Molecules & Diseases, 2020

Congenital dyserythropoietic anemias: molecular insights and diagnostic approach.

Iolascon A et al.

Blood, 2013

Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23.

Liljeholm M et al.

Blood, 2013

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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."