Varaico: Literature-Extracted Genetic Variants

Gene:HTRA1
Variant:p.G341R
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HTRA1

NM_002775.5:p.G341R

Associated Papers

CADASIL: A NOTCH3-associated cerebral small vessel disease.

Yuan L et al.

Journal of Advanced Research, 2024

38176524 (PubMed )
Supplement: mmc1.doc

Rational correction of pathogenic conformational defects in HTRA1.

Beaufort N et al.

Nature Communications, 2024

39013852 (PubMed )
Supplement: 41467_2024_49982_MOESM1_ESM.pdf

Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.

Li YM et al.

Frontiers in Genetics, 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

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

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

Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features.

Ziaei A et al.

Neurology. Genetics, 2019

A Chinese CARASIL Patient Caused by Novel Compound Heterozygous Mutations in HTRA1.

Xie F et al.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 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."