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Wiley, The American Journal of Medical Genetics - Part A, 1(176), p. 230-234, 2017

DOI: 10.1002/ajmg.a.38549

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Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay

This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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