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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SGSH

Variant:p.V387_H388insFs

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SGSH

NM_000199.5:p.V387_H388insFs

hg38:chr17:80210799 G>GC

Associated Papers

Novel PANK2 mutation in a Chinese boy with PANK2-associated neurodegeneration: A case report and review of Chinese cases.

Zhang Y et al.

Medicine, 2019

30681573 (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."