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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TREX1

Variant:p.D200Y

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TREX1

NM_033629.6:p.D200Y

hg38:chr3:48467253 G>T

Associated Papers

Nucleotide metabolism, leukodystrophies, and CNS pathology.

Gavazzi F et al.

Journal of Inherited Metabolic Disease, 2024

38421058 (PubMed )

Genetic analysis reveals novel variants for vascular cognitive impairment.

Mönkäre S et al.

Acta Neurologica Scandinavica, 2022

35307828 (PubMed )

Supplement: ANE-146-42-s001.docx

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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."