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Identification of large NF1 duplications reciprocal to NAHR-mediated type-1 NF1 deletions.
Kehrer-Sawatzki, Hildegard; Bengesser, Kathrin; Callens, Tom; Mikhail, Fady; Fu, Chuanhua; Hillmer, Morten; Walker, Martha E; Saal, Howard M; Lacassie, Yves; Cooper, David N; Messiaen, Ludwine.
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  • Kehrer-Sawatzki H; Institute of Human Genetics, University of Ulm, Ulm, Germany.
Hum Mutat ; 35(12): 1469-75, 2014 Dec.
Article in En | MEDLINE | ID: mdl-25205021
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genes, Neurofibromatosis 1 / Gene Deletion / Gene Duplication / Homologous Recombination Type of study: Diagnostic_studies Limits: Adolescent / Child / Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2014 Document type: Article Affiliation country: Germany Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genes, Neurofibromatosis 1 / Gene Deletion / Gene Duplication / Homologous Recombination Type of study: Diagnostic_studies Limits: Adolescent / Child / Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2014 Document type: Article Affiliation country: Germany Country of publication: United States