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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL6A1

Variant:p.E279_D285del0

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COL6A1

NM_001848.3:p.E279_D285del0

hg38:chr21:45989110 AGGAGAGAAGGGAGAAGCC>A

Associated Papers

Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.

Gaouzi Z et al.

Plos One, 2025

40388540 (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."