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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TREX1

Variant:p.K75insFs

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TREX1

NM_033629.6:p.K75insFs

hg38:chr3:48466877 G>GA

Associated Papers

Phenotypic variability of a TREX1 variant in Aicardi-Goutieres type 1 patients from the Indian subcontinent.

Abraham SSC et al.

European Journal of Medical Genetics, 2021

34303877 (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."