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bibliographicCitation Monteiro A, Real R, Nadais G, Silveira F, Leão M. BSCL2 N88S mutation in a Portuguese patient with the Silver syndrome. Muscle Nerve. 2015 Mar;51(3):456–8. doi: 10.1002/mus.24455. PMID: 25219579.
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title BSCL2 N88S mutation in A Portuguese patient with the Silver syndrome
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