Found 7 results
Filters: Author is Martelli, Pier Luigi [Clear All Filters]
Assessing Computational Predictions of the Phenotypic Effect of Cystathionine-beta-Synthase Variants. Hum Mutat. 2019 .
Assessment of methods for predicting the effects of PTEN and TPMT protein variants. Hum Mutat. 2019 .
Assessment of predicted enzymatic activity of alpha-N-acetylglucosaminidase (NAGLU) variants of unknown significance for CAGI 2016. Hum Mutat. 2019 .
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases. Hum Mutat. 2019 .
Performance of computational methods for the evaluation of Pericentriolar Material 1 missense variants in CAGI-5. Hum Mutat. 2019 .