Global ETD Search
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Showing 1 to 1 of 1 for “"modified penetrance"”.
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Common genetic variation and spliceosome variants in rare developmental disorders
… disorders (NDDs). These are likely affecting the penetrance of protein-coding variants as well as expressivity, posing a major challenge in the interpretation of rare variants. An additional challenge is our incomplete understanding of which variants are likely to affect gene function. Due to the …