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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PROZ

Variant:p.Q191_V192Splc

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PROZ

NM_003891.3:p.Q191_V192Splc

hg38:chr13:113165199 G>A

Associated Papers

Genetic variants associated with Fabry disease progression despite enzyme replacement therapy.

Scionti F et al.

Oncotarget, 2017

29296186 (PubMed )

Renal involvement in paediatric Fabry disease.

Sestito S et al.

Journal of Biological Regulators and Homeostatic Agents, 0

31630715 (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."