Varaico: Literature-Extracted Genetic Variants

Gene:HTRA1
Variant:p.Q318H
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HTRA1

NM_002775.5:p.Q318H

Associated Papers

Decreased water exchange rate across blood-brain barrier in hereditary cerebral small vessel disease.

Li Y et al.

Brain : a Journal of Neurology, 2023

36625892 (PubMed )
Supplement: awac500_supplementary_data.pdf

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

Xu SY et al.

International Journal of General Medicine, 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

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."