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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KIF5A

Variant:p.R280G

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KIF5A

NM_004984.4:p.R280G

hg38:chr12:57569274 C>G

Associated Papers

Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis.

Safka Brozkova D et al.

Human Genomics, 2026

41749354 (PubMed )

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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."