Varaico: Literature-Extracted Genetic Variants

Gene:HTRA1
Variant:p.S284N
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HTRA1

NM_002775.5:p.S284N

Associated Papers

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

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

Xu SY et al.

International Journal of General Medicine, 2023

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

HTRA1-related autosomal dominant cerebral small vessel disease.

Liu JY et al.

Chinese Medical Journal, 2020

33109952 (PubMed )
Supplement: cm9-134-178-s001.pdf

HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature.

Uemura M et al.

Frontiers in Neurology, 2020

Heterozygous HTRA1 mutations with mimicking symptoms of CARASIL in two families.

Kono Y et al.

Clinical Neurology and Neurosurgery, 2018

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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."