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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KIF1A

Variant:p.L173L

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KIF1A

NM_001244008.2:p.L173L

hg38:chr2:240786424 C>T

Associated Papers

An intramolecular interaction between the FHA domain and a coiled coil negatively regulates the kinesin motor KIF1A.

Lee JR et al.

The Embo Journal, 2004

15014437 (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."