Varaico: Literature-Extracted Genetic Variants

Gene:HYAL2
Variant:p.N357S
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HYAL2

NM_003773.5:p.N357S

Associated Papers

Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.

He Q et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1

Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Nastase A et al.

Scientific Reports, 2021

34580349 (PubMed )
Supplement: 41598_2021_98414_MOESM2_ESM.xlsx › Table_2_WES_var

Whole exome sequencing in the Framingham Heart Study identifies rare variation in HYAL2 that influences platelet aggregation.

Eicher JD et al.

Thrombosis and Haemostasis, 2017

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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."