Varaico: Literature-Extracted Genetic Variants

Gene:HYAL1
Variant:p.T392M
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HYAL1

NM_033159.4:p.T392M

Associated Papers

Rare-variant burden across lysosomal genes implicates sialylation and ganglioside metabolism in Parkinson's disease.

Senkevich K et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

41757160 (PubMed )
Supplement: media-1.xlsx › S2_Rare_variants

Common single nucleotide polymorphisms associated with idiopathic pulmonary fibrosis: a systematic review.

Dhooria S et al.

European Respiratory Review : an Official Journal of the European Respiratory Society, 2024

39322261 (PubMed )
Supplement: ERR-0018-2024.SUPPLEMENT.pdf

A nonsynonymous polymorphism (rs117179004, T392M) of hyaluronidase 1 (HYAL1) is associated with increased risk of idiopathic pulmonary fibrosis in Southern Han Chinese.

Liu J et al.

Journal of Clinical Laboratory Analysis, 2021

Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Chang H et al.

Plos One, 2011

21701589 (PubMed )
Supplement: pone.0021097.s002.xls › gtl16_f40r3
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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."