Phenotypic expansion illuminates multilocus pathogenic variation.
dc.contributor.author | Muzny, D | |
dc.contributor.author | Yesil, Gözde | |
dc.contributor.author | Isikay, S | |
dc.contributor.author | Gibbs, RA | |
dc.contributor.author | Lupski, JR | |
dc.contributor.author | Karaca, E | |
dc.contributor.author | Posey, JE | |
dc.contributor.author | Coban, Akdemir | |
dc.contributor.author | Pehlivan, D | |
dc.contributor.author | Harel, T | |
dc.contributor.author | Jhangiani, SN | |
dc.contributor.author | Bayram, Y | |
dc.contributor.author | Song, X | |
dc.contributor.author | Bahrambeigi, V | |
dc.contributor.author | Yuregir, OO | |
dc.contributor.author | Bozdogan, S | |
dc.date.accessioned | 2021-03-04T18:41:25Z | |
dc.date.available | 2021-03-04T18:41:25Z | |
dc.identifier.citation | Karaca E., Posey J., Coban A., Pehlivan D., Harel T., Jhangiani S., Bayram Y., Song X., Bahrambeigi V., Yuregir O., et al., "Phenotypic expansion illuminates multilocus pathogenic variation.", Genetics in medicine : official journal of the American College of Medical Genetics, cilt.20, ss.1528-1537, 2018 | |
dc.identifier.issn | 1098-3600 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_8c0bf28c-29f8-4afd-b6c9-b6a00985ef14 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/94750 | |
dc.identifier.uri | https://doi.org/10.1038/gim.2018.33 | |
dc.language.iso | eng | |
dc.title | Phenotypic expansion illuminates multilocus pathogenic variation. | |
dc.type | Makale | |
dc.relation.journal | Genetics in medicine : official journal of the American College of Medical Genetics | |
dc.contributor.department | , , | |
dc.identifier.volume | 20 | |
dc.identifier.startpage | 1528 | |
dc.identifier.endpage | 1537 | |
dc.contributor.firstauthorID | 1042964 |
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