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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APCS

Variant:p.D22Splc

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APCS

NM_001639.4:p.D22Splc

hg38:chr1:159588100 G>C

Associated Papers

Identification of mutations in Colombian patients affected with Fabry disease.

Uribe A et al.

Gene, 2015

26297554 (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."