Varaico: Literature-Extracted Genetic Variants

Gene:HTRA1
Variant:p.S270fs
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HTRA1

NM_002775.5:p.S270fs

Associated Papers

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

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

Ziaei A et al.

Neurology. Genetics, 2019

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