Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders
| dc.contributor.author | Bozkurt\\-Yozgatli, Tugce | |
| dc.contributor.author | Pehlivan, Davut | |
| dc.contributor.author | Gibbs, Richard A. | |
| dc.contributor.author | Sezerman, Ugur | |
| dc.contributor.author | Posey, Jennifer E. | |
| dc.contributor.author | Lupski, James R. | |
| dc.contributor.author | Coban\\-Akdemir, Zeynep | |
| dc.date.accessioned | 2025-10-16T15:13:30Z | |
| dc.date.issued | 2024 | |
| dc.identifier.doi | 10.1186/s12920-024-01852-4 | |
| dc.identifier.other | WOS:001202561900001 | |
| dc.identifier.uri | https://openaccess.acibadem.edu.tr/handle/11443/5842 | |
| dc.publisher | BMC | |
| dc.source | BMC MEDICAL GENOMICS | |
| dc.subject | Exome sequencing | |
| dc.subject | Runs\\-of\\-homozygosity | |
| dc.subject | Multilocus pathogenic variation | |
| dc.subject | Neurodevelopmental disorders | |
| dc.title | Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders | |
| dc.type | Article |
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