TY  - JOUR
AU  - Bueno, Anibal
AU  - Rodríguez-López, Rocío
AU  - Reyes-Palomares, Armando
AU  - Rojano, Elena
AU  - Corpas, Manuel
AU  - Nevado, Julián
AU  - Lapunzina, Pablo
AU  - Sánchez-Jiménez, Francisca
AU  - Ranea, Juan A G
PY  - 2018
DO  - 10.1038/s41431-018-0139-x
UR  - http://hdl.handle.net/10668/12647
T2  - European journal of human genetics : EJHG
AB  - Copy number variations (CNVs) are genomic structural variations (deletions, duplications, or translocations) that represent the 4.8-9.5% of human genome variation in healthy individuals. In some cases, CNVs can also lead to disease, being the etiology...
LA  - en
KW  - Chromosome Mapping
KW  - Comparative Genomic Hybridization
KW  - DNA Copy Number Variations
KW  - Databases, Genetic
KW  - Genetic Association Studies
KW  - Genetic Predisposition to Disease
KW  - Genome, Human
KW  - Genotype
KW  - Humans
KW  - Phenotype
KW  - Polymorphism, Single Nucleotide
KW  - Rare Diseases
KW  - Sequence Deletion
TI  - Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases.
TY  - research article
VL  - 26
ER  -