Varaico: Literature-Extracted Genetic Variants

Gene:HYAL1
Variant:p.V35delFs
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HYAL1

NM_033159.4:p.V35delFs

Associated Papers

Epidemiology of Mucopolysaccharidoses Update.

Çelik B et al.

Diagnostics (basel, Switzerland), 2021

Epidemiology of mucopolysaccharidoses.

Khan SA et al.

Molecular Genetics and Metabolism, 2017

Biology of hyaluronan: Insights from genetic disorders of hyaluronan metabolism.

Triggs-Raine B et al.

World Journal of Biological Chemistry, 2015

tmVar: a text mining approach for extracting sequence variants in biomedical literature.

Wei CH et al.

Bioinformatics (oxford, England), 2013

A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritis.

Imundo L et al.

Journal of Inherited Metabolic Disease, 2011

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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."