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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRIO

Variant:p.V1123_Y1126del4

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TRIO

NM_007118.4:p.V1123_Y1126del4

hg38:chr5:14378046 GGTATTGCATTAC>G

Associated Papers

Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

Kaschta D et al.

Genome Medicine, 2025

40963120 (PubMed )

Supplement: 13073_2025_1516_MOESM1_ESM.xlsx › S2_Variants

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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."