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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TFEB

Variant:p.P118S

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TFEB

NM_001271944.2:p.P118S

hg38:chr6:41690779 G>A

Associated Papers

Fabry disease in the Spanish population: observational study with detection of 77 patients.

Vieitez I et al.

Orphanet Journal of Rare Diseases, 2018

29631605 (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."