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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACTB

Variant:p.T194I

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ACTB

NM_001101.5:p.T194I

hg38:chr7:5528502 G>A

Associated Papers

Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants.

Yam GH et al.

American Journal of Physiology. Cell Physiology, 2006

16531566 (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."