Publications
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Filters: Author is Stankiewicz, Pawel and Keyword is Genetic Diseases, Inborn [Clear All Filters]
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res 23, 1383-94 (2013).
Somatic mosaicism: implications for disease and transmission genetics. Trends Genet 31, 382-92 (2015).