Varaico: Literature-Extracted Genetic Variants

Gene:HTRA1
Variant:p.E277fs
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HTRA1

NM_002775.5:p.E277fs

Associated Papers

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

Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.

Whittaker E et al.

Journal of the American Heart Association, 2022

HTRA1-related autosomal dominant cerebral small vessel disease.

Liu JY et al.

Chinese Medical Journal, 2020

CARASIL families from India with 3 novel null mutations in the HTRA1 gene.

Preethish-Kumar V et al.

Neurology, 2017

CARASIL - A Review of Patients from India.

Khandelwal D et al.

Neurology India, 0

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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."