Skip to Main Content

Paper Details

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.
Genet Med
123
2019
1507 genes, 599 genes, CNV, CNVs, Mendelian disease, Mendelian disease genes, cardiovascular, neurological, or pediatric disorders, disease genes, exons, gene panels, genes, hereditary cancer syndromes, human, human disease genes, intragenic, intragenic CNVs, monogenic disorders, recessive disorders
Author NameAffiliation
Rebecca Truty
Stephen E Lincoln
Robert L Nussbaum
Robert L NussbaumVolunteer Clinical Faculty, University of California san francisco
  • 1 - 4

Datasets

Release 1.2