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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KLC2

Variant:p.R555H

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KLC2

NM_001318734.2:p.R555H

hg38:chr11:66266154 G>A

Associated Papers

SPOAN syndrome: a novel mutation and new ocular findings; a case report.

Bazvand F et al.

Bmc Neurology, 2021

33451298 (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."