Publications
Export 2 results:
Author Title [ Year
] Filters: Keyword is Carrier Proteins and Author is Stray-Pedersen, Asbjørg [Clear All Filters]
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med 21, 663-675 (2019).
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Am J Hum Genet 98, 202-9 (2016).
