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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:S100A12

Variant:p.L8insFs

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S100A12

NM_005621.2:p.L8insFs

hg38:chr1:153374570 A>AGGCT

Associated Papers

Identification of novel USH2A mutations: implications for the structure of USH2A protein.

Dreyer B et al.

European Journal of Human Genetics : Ejhg, 2000

10909849 (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."