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Filters: Author is Stray-Pedersen, Asbjørg and Keyword is Membrane Proteins [Clear All Filters]
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Am J Hum Genet 98, 202-9 (2016).
Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med 9, 26 (2017).