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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SULF1

Variant:p.G325R

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SULF1

NM_001128205.2:p.G325R

hg38:chr8:69601741 G>A

Associated Papers

Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

Park JK et al.

Pediatric Research, 2003

12595585 (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."