Varaico: Literature-Extracted Genetic Variants

Gene:ASNS
Variant:p.R236delFs
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ASNS

NM_001673.5:p.R236delFs

Associated Papers

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.

Stenton SL et al.

Human Genomics, 2024

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.

Stenton SL et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

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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."