Question: What is a de novo pathogenic variant ( mutation ) ? A variant not yet described in the international database. A variant identified in an
What is a de novo pathogenic variant mutation
A variant not yet described in the international database.
A variant identified in an individual and excluded in both parents.
A variant that can be used for targeted testing among the siblings.
A variant that can be used for targeted testing among the offspring.
A variant that cannot be transmitted in the next generation.
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