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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HEXA

Variant:p.L172del1

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HEXA

NM_000520.6:p.L172del1

hg38:chr15:72353121 GCAA>G

Associated Papers

Occurrence of an anomalous endocytic compartment in fibroblasts from Sandhoff disease patients.

Tancini B et al.

Molecular and Cellular Biochemistry, 2010

19823769 (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."