Varaico: Literature-Extracted Genetic Variants

Gene:KIFBP
Variant:p.R549*
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KIFBP

NM_015634.4:p.R549*

Associated Papers

Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene.

Ooi JCE et al.

Clinical Genetics, 2024

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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."