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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KIF1A

Variant:p.Y347C

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KIF1A

NM_001244008.2:p.Y347C

hg38:chr2:240773254 T>C

Associated Papers

Genome scale analysis of pathogenic variants targetable for single base editing.

Lavrov AV et al.

Bmc Medical Genomics, 2020

32948190 (PubMed )

Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations

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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."