Varaico: Literature-Extracted Genetic Variants

Gene:KIF4A
Variant:p.D280G
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KIF4A

NM_012310.5:p.D280G

Associated Papers

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

Yamada K et al.

Nature Genetics, 2003

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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."