NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations

Authors:	Diana Carli Elisa Giorgio Francesca Pantaleoni Alessandro Bruselles Sabina Barresi Evelise Riberi Francesco Licciardi Andrea Gazzin Giuseppina Baldassarre Simone Pizzi Marcello Niceta Francesca C Radio Cristina Molinatto Davide Montin Pier L Calvo Andrea Ciolfi Nicole Fleischer Giovanni B Ferrero Alfredo Brusco Marco Tartaglia

Abstract:

Keywords:	acute liver failure face2gene facial recognition technology genotype– phenotype correlation NBAS splicing variant