Varaico: Literature-Extracted Genetic Variants

Gene:HTRA1
Variant:p.V279M
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HTRA1

NM_002775.5:p.V279M

Associated Papers

Clinical Diagnosis and Differential Diagnosis Between CSF1R- and AARS2-Related Leukoencephalopathy.

Mao C et al.

Journal of Molecular Neuroscience : Mn, 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

High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.

Uemura M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2023

Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases: Genetic, Clinical, and Pathologic Findings From 3 Chinese Pedigrees.

Yao T et al.

Neurology. Genetics, 2022

Clinical application of next-generation sequencing to the practice of neurology.

Rexach J et al.

The Lancet. 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."