Associated Papers
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Jordan VK et al.
Human Mutation, 2018
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.
Fregeau B et al.
American Journal of Human Genetics, 2016
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