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Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.
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Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res. 2013 Sep; 23(9):1383-94.
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PubMed
subject areas
Alleles
Comparative Genomic Hybridization
Databases, Genetic
DNA Copy Number Variations
Gene Deletion
Gene Frequency
Genes, Dominant
Genes, Recessive
Genetic Diseases, Inborn
Homozygote
Humans
authors with profiles
PAWEL STANKIEWICZ
CHAD SHAW
WEIMIN BI
SEEMA LALANI
SAU WAI CHEUNG
JAMES LUPSKI