A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes.
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| Title: | A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes. |
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| Authors: | Gershlick DC; Cell Biology and Neurobiology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA., Ishida M; Cell Biology and Neurobiology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA., Jones JR; Greenwood Genetic Center, Greenwood, SC, USA., Bellomo A; Greenwood Genetic Center, Greenwood, SC, USA., Bonifacino JS; Cell Biology and Neurobiology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA., Everman DB; Greenwood Genetic Center, Greenwood, SC, USA. |
| Source: | Human molecular genetics [Hum Mol Genet] 2019 May 01; Vol. 28 (9), pp. 1548-1560. |
| Publication Type: | Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1460-2083 |
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| DOI: | 10.1093/hmg/ddy423 |
