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UnknownA description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.
Early infantile epileptic encephalopathy-44 (EIEE44, MIM: 617132) is a previously described condition resulting from biallelic variants in UBA5, a gene involved in a ubiquitin-like post-translational modification system called UFMylation. Here we report five children from four families with b...
S-EPMC8208045 | biostudies-literature
UnknownLooking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted single-gene testing.ResultsIndividual 1 had a c...
S-EPMC5851806 | biostudies-literature
UnknownThe database of the PREDICTS (Projecting Responses of Ecological Diversity In Changing Terrestrial Systems) project.
The PREDICTS project-Projecting Responses of Ecological Diversity In Changing Terrestrial Systems (www.predicts.org.uk)-has collated from published studies a large, reasonably representative database of comparable samples of biodiversity from multiple sites that differ in the nature or intensity of ...
S-EPMC5215197 | biostudies-literature
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