Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.Q2251K
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SACS

NM_014363.6:p.Q2251K

Associated Papers

A Compound Heterozygous Pathogenic Variant in B4GALNT1 Is Associated With Axonal Charcot-Marie-Tooth Disease.

Hong JM et al.

Journal of Clinical Neurology (seoul, Korea), 2021

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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."