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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SACS

Variant:p.H3392_D3395delFs

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SACS

NM_001278055.2:p.H3392_D3395delFs

hg38:chr13:23333251 TCATAGAAATG>T

Associated Papers

Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations.

Lu Q et al.

Annals of Translational Medicine, 2020

32055599 (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."