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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLB1

Variant:p.I284fs

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GLB1

NM_000404.4:p.I284fs

hg38:chr3:33051947 GAT>N

Associated Papers

Clinical findings in Brazilian patients with adult GM1 gangliosidosis.

Giugliani L et al.

Jimd Reports, 2019

31497487 (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."