Associated Papers
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM3_ESM.xlsx › Table_S2
Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.
Roos L et al.
Bmc Medical Genetics, 2015
Select a paper to view details