Ten points to consider when providing genetic counseling for variants of incomplete penetrance and variable expressivity detected in a prenatal setting
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DOI: 10.1111/aogs.13963
Abstract: Genetic testing platforms such as chromosomal microarray analysis and next generation sequencing often detect genetic variants of incomplete penetrance and variable expressivity. The difficulty to determine the exact genotype-phenotype correlations and to predict the clinical… read more here.
Keywords: detected prenatal; penetrance variable; prenatal setting; incomplete penetrance ... See more keywords