Associated Papers
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 2024
39468051 (PubMed )
Supplement: 41525_2024_434_MOESM2_ESM.xlsx › Report_Outcomes_and_Variants
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Cheng H et al.
Human Mutation, 2019
Select a paper to view details