Varaico: Literature-Extracted Genetic Variants

Gene:KIF2A
Variant:p.R317Q
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KIF2A

NM_001243952.2:p.R317Q

Associated Papers

Mutations obstructing ATP's emplacement in KIF2A nucleotide-binding pocket causes parenchymal malformations, motor developmental delay, with intellectual disability.

Zhao X et al.

Molecular Genetics & Genomic Medicine, 2023

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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."