Varaico: Literature-Extracted Genetic Variants

Gene:HTRA1
Variant:p.Q318R
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HTRA1

NM_002775.5:p.Q318R

Associated Papers

Typical "brainstem chocolate chip sign" in heterozygous HTRA1-related cerebral small vessel disease.

Guo Y et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

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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."