Mild arthrogryposis, renal dysfunction and cholestasis syndrome caused by a novel splice-site mutation in VPS33B

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Volume
175
Pagination
81 - 82
ISSN
0007-0963
Metadata
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Authors
Ahmed, A; McGinty, L; Blaydon, D; Kelsell, DP; O'Toole, EA; De Silva, B
URI
http://qmro.qmul.ac.uk/xmlui/handle/123456789/16012
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