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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALG13

Variant:p.A81insFs

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ALG13

NM_001099922.3:p.A81insFs

hg38:chrX:111682290 C>CG

Associated Papers

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Pagnamenta AT et al.

Genome Medicine, 2023

37946251 (PubMed )

Supplement: 13073_2023_1240_MOESM1_ESM.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."