Varaico: Literature-Extracted Genetic Variants

Gene:FUCA1
Variant:p.Y131*
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FUCA1

NM_000147.5:p.Y131*

Associated Papers

Prevalence of lysosomal storage disease (LSD) in Malaysia.

Omar A et al.

The Malaysian Journal of Pathology, 2025

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

Stepien KM et al.

Genes, 2020

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.

Ziats MN et al.

Pediatric Research, 2020

31618753 (PubMed )
Supplement: NIHMS1541080-supplement-Supp_Tables_1-2.xlsx › Supp_Table_1

Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.

Mak CC et al.

Npj Genomic Medicine, 2018

30109123 (PubMed )
Supplement: 41525_2018_56_MOESM1_ESM.pdf
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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."