Varaico: Literature-Extracted Genetic Variants

Gene:C6
Variant:p.L378H
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C6

NM_000065.5:p.L378H

Associated Papers

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.

Ardissone A et al.

Orphanet Journal of Rare Diseases, 2018

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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."