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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SGSH

Variant:p.V404_S405insFs

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SGSH

NM_000199.5:p.V404_S405insFs

hg38:chr17:80210744 G>GGTGA

Associated Papers

Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells.

Murgasova L et al.

Virchows Archiv : an International Journal of Pathology, 2024

37787787 (PubMed )

Supplement: 428_2023_3662_MOESM1_ESM.pdf

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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."