Associated Papers
Correction to "Genotype-phenotype correlations in individuals with pathogenic RERE variants".
Unknown Author
Human Mutation, 2025
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
Phenotypic variability in RERE-related disorders and the first report of an inherited variant.
Niehaus AD et al.
American Journal of Medical Genetics. Part A, 2022
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Jordan VK et al.
Human Mutation, 2018
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