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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GUSB

Variant:p.R613delFs

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GUSB

NM_000181.4:p.R613delFs

hg38:chr7:65961013 GTC>G

Associated Papers

Genomic autopsy in neonatal-onset mucopolysaccharidosis type VII: Key for diagnosis and future planning.

Okuno T et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

41492846 (PubMed )

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