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| 25983245 | Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement. | Am J Hum Genet | 2015 |
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| 24614073 | Mutations in TJP2 cause progressive cholestatic liver disease. | Nat Genet | 2014 |
| 24705253 | De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. | Nat Genet | 2014 |
| 24336167 | Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. | Nat Genet | 2014 |