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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KIF1A

Variant:p.R346W

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KIF1A

NM_001244008.2:p.R346W

hg38:chr2:240773258 T>A

Associated Papers

Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.

Vecchia SD et al.

Journal of Neurology, 2022

34487232 (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."