Varaico: Literature-Extracted Genetic Variants

Gene:HTRA1
Variant:p.V339M
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HTRA1

NM_002775.5:p.V339M

Associated Papers

Comparison of clinical and imaging features of cerebral small vessel disease associated with heterozygous HTRA1 and NOTCH3 mutations.

Lee YC et al.

International Journal of Stroke : Official Journal of the International Stroke Society, 2026

Heterozygous Pathogenic and Likely Pathogenic Symptomatic HTRA1 Variant Carriers in Cerebral Small Vessel Disease.

Xu SY et al.

International Journal of General Medicine, 2023

Novel mutations in HTRA1-related cerebral small vessel disease and comparison with CADASIL.

Zhang C et al.

Annals of Clinical and Translational Neurology, 2022

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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."