Varaico: Literature-Extracted Genetic Variants

Gene:HTRA1
Variant:p.R166H
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HTRA1

NM_002775.5:p.R166H

Associated Papers

Rational correction of pathogenic conformational defects in HTRA1.

Beaufort N et al.

Nature Communications, 2024

Genetically proxied HTRA1 protease activity and circulating levels independently predict risk of ischemic stroke and coronary artery disease.

Malik R et al.

Nature Cardiovascular Research, 2024

39196222 (PubMed )
Supplement: 44161_2024_475_MOESM3_ESM.xlsx › ST1

Genetically proxied HTRA1 protease activity and circulating levels independently predict risk of ischemic stroke and coronary artery disease.

Dichgans M et al.

Research Square, 2023

An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3.

Bouhouche A et al.

Bmc Medical Genetics, 2012

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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."