Varaico: Literature-Extracted Genetic Variants

Gene:KIFBP
Variant:p.D372_A373insFs
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KIFBP

NM_015634.4:p.D372_A373insFs

Associated Papers

Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome.

Salehpour S et al.

Iranian Journal of Child Neurology, 2017

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.

Valence S et al.

Neurogenetics, 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."