IBBR Publications
Found 5 results
Filters: Author is Andreoletti, Gaia [Clear All Filters]
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge. Hum Mutat. 2019 .
Assessment of predicted enzymatic activity of alpha-N-acetylglucosaminidase (NAGLU) variants of unknown significance for CAGI 2016. Hum Mutat. 2019 .
. Reports from CAGI: The Critical Assessment of Genome Interpretation. Hum Mutat. 2017 ;38(9):1039-1041.
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