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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KIF1C

Variant:p.N312fs

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KIF1C

NM_006612.6:p.N312fs

hg38:chr17:5004067 AAT>N

Associated Papers

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.

Ngo KJ et al.

Human Mutation, 2020

31692161 (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."