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Vilarinho L, Tafulo S, Sibilio M, Kok F, Fontana F, Diogo L, Venâncio M, Ferreira M, Nogueira C, Valongo C, Parenti G, Amorim A, Azevedo L
Identification of novel L2HGDH gene mutations and update of the pathological spectrum. Journal of human genetics 55: 55-8, 2010.  [Article] 
 
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