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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KIF1A

Variant:p.R346Splc

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KIF1A

NM_001244008.2:p.R346Splc

hg38:chr2:240773259 G>C

Associated Papers

Long-term clinical observation of patients with heterozygous KIF1A variants.

Kawashima A et al.

American Journal of Medical Genetics. Part A, 2024

38760879 (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."