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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GTSF1

Variant:p.E63insFs

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GTSF1

NM_144594.3:p.E63insFs

hg38:chr12:54463227 T>TA

Associated Papers

Four novel mutations in the β-galactosidase gene identified in infantile type of GM1 gangliosidosis.

Celtikçi B et al.

Clinical Biochemistry, 2012

22234367 (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."