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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NCL

Variant:p.A5insFs

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NCL

NM_005381.3:p.A5insFs

hg38:chr2:231464340 G>GT

Associated Papers

RPS19 mutations in patients with Diamond-Blackfan anemia.

Campagnoli MF et al.

Human Mutation, 2008

18412286 (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."