Varaico: Literature-Extracted Genetic Variants

Gene:FUCA1
Variant:p.D281G
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FUCA1

NM_000147.5:p.D281G

Associated Papers

Mutation identification and characterization of a Taiwanese patient with fucosidosis.

Lin SP et al.

Journal of Human Genetics, 2007

Spectrum of mutations in fucosidosis.

Willems PJ et al.

European Journal of Human Genetics : Ejhg, 1999

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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."