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A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement
Author / Organization: Christopher Jackson, Martina Huemer, Ramona Bolognini, Franck Martin, Gabor Szinnai, Birgit Donner, Uwe Richter, Brendan Battersby, Jean-Marc Nuoffer, Anu Suomalainen, André Schaller
| File Format | PDF (Portable Document Format) |
|---|---|
| Publication Year | 2019 |
| Source Host |
HAL Open Science
(hal.science)
|
| License / Terms | Open Access / Creative Commons |
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