High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.
Genetics in medicine : official journal of the American College of Medical Genetics 2015 Mar .
Wassif Christopher A, Cross Joanna L, Iben James, Sanchez-Pulido Luis, Cougnoux Antony, Platt Frances M, Ory Daniel S, Ponting Chris P, Bailey-Wilson Joan E, Biesecker Leslie G, Porter Forbes
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