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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SACS

Variant:p.L3159_D3160del2

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SACS

NM_014363.6:p.L3159_D3160del2

hg38:chr13:23334395 TGTCCAG>T

Associated Papers

Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.

Kim YG et al.

Brain Communications, 2023

37180992 (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."