Varaico: Literature-Extracted Genetic Variants

Gene:FUCA1
Variant:p.P224delFs
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FUCA1

NM_000147.5:p.P224delFs

Associated Papers

An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis).

Mao SJ et al.

Bmc Pediatrics, 2022

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

Stepien KM et al.

Genes, 2020

Novel mutations in the FUCA1 gene that cause fucosidosis.

Panmontha W et al.

Genetics and Molecular Research : Gmr, 2016

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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."