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Showing 1 to 1 of 1 for “"variant effect mapping"”.

  1. Systematically and proactively testing variant effects for AIRE and SOD1

    … unable to determine the pathogenicity of rare variants in disease-associated genes. Under current guidelines, one of the strongest forms of evidence for variant annotation comes from (often cell-based) functional assays of variant impacts. One-at-a-time variant functional assays are the current …

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