Crowdfunding Effort Identifies the Causative Mutation in a Patient with Nystagmus, Microcephaly, Dystonia and Hypomyelination

Authors :: Esther Leshinsky-Silver
Dorit Lev
Noam Shomron
Gershon Celniker
Ofer Isakov
Lubov Blumkin
Source :: Journal of Genetics and Genomics. 42:79-81
Publication Year :: 2015
Publisher :: Elsevier BV, 2015.

Subjects :: Dystonia
Microcephaly
Mutation (genetic algorithm)
Genetics
medicine
Nystagmus
Biology
medicine.symptom
medicine.disease
Bioinformatics
Molecular Biology
Exome

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