Gerarda Cappuccio to Loss of Function Mutation
This is a "connection" page, showing publications Gerarda Cappuccio has written about Loss of Function Mutation.
Connection Strength
0.218
-
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. Am J Hum Genet. 2021 06 03; 108(6):1138-1150.
Score: 0.165
-
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration. Nat Commun. 2025 Mar 12; 16(1):2479.
Score: 0.054