Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI‐5 intellectual disability challenge
Carraro, Marco, Monzon, Alexander Miguel, Chiricosta, Luigi, Reggiani, Francesco, Aspromonte, Maria Cristina, Bellini, Mariagrazia, Pagel, Kymberleigh, Jiang, Yuxiang, Radivojac, Predrag, Kundu, KunalLanguage:
english
Journal:
Human Mutation
DOI:
10.1002/humu.23823
Date:
May, 2019
File:
PDF, 882 KB
english, 2019