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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FUCA1

Variant:p.L15_L19delFs

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FUCA1

NM_000147.5:p.L15_L19delFs

hg38:chr1:23868229 GCAGCAGCAGCAAC>G

Associated Papers

Mutation identification of Fabry disease in families with other lysosomal storage disorders.

Zampetti A et al.

Clinical Genetics, 2013

23210910 (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."