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Article

Crowdfunding effort identifies the causative mutation in a patient with nystagmus, microcephaly, dystonia and hypomyelination.

Journal of genetics and genomics = Yi chuan xue bao - 20 Feb 2015

Isakov Ofer, Lev Dorit, Blumkin Lubov, Celniker Gershon, Leshinsky-Silver Esther, Shomron Noam

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Identifiers

PMID: 25697102
DOI: 10.1016/j.jgg.2014.12.004

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