Varaico: Literature-Extracted Genetic Variants

Gene:HTRA1
Variant:p.N324S
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HTRA1

NM_002775.5:p.N324S

Associated Papers

Rational correction of pathogenic conformational defects in HTRA1.

Beaufort N et al.

Nature Communications, 2024

39013852 (PubMed )
Supplement: 41467_2024_49982_MOESM1_ESM.pdf

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

Genetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort.

Liu M et al.

Annals of Clinical and Translational Neurology, 2023

Novel c.971A>G mutation in the HTRA1 gene in a Chinese family with CARASIL.

Hou MM et al.

Journal of Biological Regulators and Homeostatic Agents, 0

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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."