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Wiley, The American Journal of Medical Genetics - Part A, 11(179), p. 2277-2283, 2019

DOI: 10.1002/ajmg.a.61339

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From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations

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

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