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1 Ergebnisse
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Large-scale discovery of novel neurodevelopmental disorder-..:
Hamanaka, Kohei
;
Miyake, Noriko
;
Mizuguchi, Takeshi
...
Genome Medicine. , 2022
Link:
https://hdl.handle.net/11454/84415
RT Journal T1
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants
UL https://suche.suub.uni-bremen.de/peid=base-ftunivege:oai:acikerisim.ege.edu.tr:11454_84415&Exemplar=1&LAN=DE A1 Hamanaka, Kohei A1 Miyake, Noriko A1 Mizuguchi, Takeshi A1 Miyatake, Satoko A1 Uchiyama, Yuri A1 Tsuchida, Naomi A1 Sekiguchi, Futoshi PB Bmc YR 2022 K1 Neurodevelopmental disorder K1 Intellectual disability K1 Epileptic encephalopathy K1 Autism spectrum disorder K1 Rare disease K1 De novo variant K1 Copy number variant K1 Copy number variation K1 Mutation rate K1 Deep learning K1 De-Novo Mutations K1 Truncating Variants K1 Identification K1 Deletion K1 Genome JF Genome Medicine LK http://dx.doi.org/https://hdl.handle.net/11454/84415 DO https://hdl.handle.net/11454/84415 SF ELIB - SuUB Bremen
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