Varaico: Literature-Extracted Genetic Variants

Gene:HTRA1
Variant:p.G206E
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HTRA1

NM_002775.5:p.G206E

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

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

The role of genetics in neurodegenerative dementia: a large cohort study in South China.

Jiao B et al.

Npj Genomic Medicine, 2021

HTRA1-related autosomal dominant cerebral small vessel disease.

Liu JY et al.

Chinese Medical Journal, 2020

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

Uemura M et al.

Frontiers in Neurology, 2020

Characterization of Heterozygous HTRA1 Mutations in Taiwanese Patients With Cerebral Small Vessel Disease.

Lee YC et al.

Stroke, 2018

Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease.

Di Donato I et al.

Cns Neuroscience & Therapeutics, 2017

Autosomal Dominant Cerebral Small Vessel Disease in HTRA1 Gene Mutation.

Mahale RR et al.

Annals of Indian Academy of Neurology, 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."