Varaico: Literature-Extracted Genetic Variants

Gene:HTRA1
Variant:p.R227W
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HTRA1

NM_002775.5:p.R227W

Associated Papers

Rare Variants in HTRA1, SGTB, and RBM12 Confer Risk of Atherosclerotic Cardiovascular Disease Independent of Traditional Cardiovascular Risk Factors.

Lockhart SM et al.

Circulation. Genomic and Precision Medicine, 2025

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

Clinical features and pathogenicity assessment in patients with HTRA1-autosomal dominant disease.

He Z et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023

Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.

Cho BPH et al.

Jama Neurology, 2022

Report of two pedigrees with heterozygous HTRA1 variants-related cerebral small vessel disease and literature review.

Zhou H et al.

Molecular Genetics & Genomic Medicine, 2022

Whole-exome sequencing reveals a role of HTRA1 and EGFL8 in brain white matter hyperintensities.

Malik R et al.

Brain : a Journal of Neurology, 2021

How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.

Tan RYY et al.

Neurology, 2019

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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."