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Journal of Medical Genetics, ISSN 0022-2593, 2018, Volume 56, Issue 11, pp. 778 - 782
Copa syndrome is a rare autosomal dominant disorder with abnormal intracellular vesicle trafficking. The objective of this work is to expand the knowledge... 
follicular bronchiolitis | lung cysts | renal cell carcinoma | arthritis | neuromyelitis optica
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PLoS Genetics, ISSN 1553-7390, 02/2017, Volume 13, Issue 2, p. e1006481
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Pediatrics International, ISSN 1328-8067, 02/2015, Volume 57, Issue 1, pp. 158 - 160
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PLoS ONE, ISSN 1932-6203, 10/2015, Volume 10, Issue 10, p. e0139729
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PLoS genetics, ISSN 1553-7404, 02/2017, Volume 13, Issue 2, p. e1006624
[This corrects the article DOI: 10.1371/journal.pgen.1006481.]. 
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Clinical and Experimental Nephrology, ISSN 1342-1751, 4/2015, Volume 19, Issue 2, pp. 264 - 270
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Japanese Journal of Pediatric Nephrology, ISSN 0915-2245, 2018, Volume 31, Issue suppl, pp. 189 - 189
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Pediatrics International, ISSN 1328-8067, 02/2015, Volume 57, Issue 1, pp. 158 - 160
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