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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FASTK

Variant:p.H156_C161del0

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FASTK

NM_006712.5:p.H156_C161del0

hg38:chr7:151079523 CACACGTGGATGGTGT>C

Associated Papers

Prevalence of Fabry disease in male dialysis patients: Argentinean screening study.

Frabasil J et al.

Jimd Reports, 2019

31392112 (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."