Varaico: Literature-Extracted Genetic Variants

Gene:FUCA1
Variant:p.C279_E280delFs
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FUCA1

NM_000147.5:p.C279_E280delFs

Associated Papers

Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series.

Stepien KM et al.

Genes, 2020

A novel homozygous frameshift mutation in the FUCA1 gene causes both severe and mild fucosidosis.

Saleh-Gohari N et al.

Journal of Clinical Pathology, 2018

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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."