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An estimation of the prevalence of genomic disorders using chromosomal microarray data
Multiple genomic disorders result from recurrent deletions or duplications between low-copy repeat (LCR) clusters, mediated by nonallelic homologous recombination (NAHR). These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population preva...
Gorde:
| Argitaratua izan da: | J Hum Genet |
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| Egile Nagusiak: | , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2018
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6019170/ https://ncbi.nlm.nih.gov/pubmed/29691480 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-018-0451-x |
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