Identification of a KDM6A somatic mutation responsible for Kabuki syndrome by excluding a conflicting KMT2D germline variant through episignature analysis
| Autor: | Kawai, Tomoko, Iwasaki, Yuji, Ogata-Kawata, Hiroko, Kamura, Hiromi, Nakamura, Kazuaki, Hata, Kenichiro, Takano, Takako, Nakabayashi, Kazuhiko |
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| Zdroj: | In European Journal of Medical Genetics August 2023 66(8) |
| Databáze: | ScienceDirect |
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