Truncation and microdeletion of EVC accompanied by a novel EFCAB7 missense mutation in Ellis-Van Creveld syndrome with atypical congenital heart defect
| Autor: | Nguyen, Nhu T.Q., Nguyen Minh Thien Doan, Trinh, Huu Tung, Saitoh, Makiko, Mizuno, Yoko, Seki, Masafumi, Sato, Yusuke, Ogawa, Seishi, Mizuguchi, Masashi |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| DOI: | 10.13140/rg.2.1.1407.9123 |
| Databáze: | OpenAIRE |
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