Varaico: Literature-Extracted Genetic Variants

Gene:KIFBP
Variant:p.E23G
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KIFBP

NM_015634.4:p.E23G

Associated Papers

Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.

MacKenzie KC et al.

Human Mutation, 2020

Haplotype analysis of BRCA1 gene reveals a new gene rearrangement: characterization of a 19.9 KBP deletion.

Tancredi M et al.

European Journal of Human Genetics : Ejhg, 2004

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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."