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Phenotypic expansion illuminates multilocus pathogenic variation.
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Phenotypic expansion illuminates multilocus pathogenic variation.
Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med. 2018 12; 20(12):1528-1537.
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PubMed
subject areas
Child, Preschool
Exome
Female
Genetic Association Studies
Genetic Diseases, Inborn
Genetic Variation
Genotype
Heterozygote
High-Throughput Nucleotide Sequencing
Humans
Infant
Infant, Newborn
Male
Mutation
Pathology, Molecular
Pedigree
Phenotype
authors with profiles
RICHARD GIBBS
JAMES LUPSKI
DONNA MUZNY
JENNIFER POSEY
DAVUT PEHLIVAN