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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HTRA1

Variant:p.D250_L253delFs

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HTRA1

NM_002775.5:p.D250_L253delFs

hg38:chr10:122489596 AGACATCGCACT>A

Associated Papers

The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.

Wu C et al.

Brain : a Journal of Neurology, 2023

36380532 (PubMed )

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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."