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Exploiting in Silico Structural Analysis to Introduce Emerging Genotype–phenotype Correlations in DHCR24-related Sterol Biosynthesis Disorder: a Case Study

Dario Cocciadiferro,Tommaso Mazza,Davide Vecchio,Tommaso Biagini,Francesco Petrizzelli,Emanuele Agolini,Andrea Villani, Daniele Minervino,Diego Martinelli,Cristiano Rizzo,Sara Boenzi,Filippo Maria Panfili,Paola Sabrina Buonuomo,Marina Macchiaiolo,Andrea Bartuli,Antonio Novelli

FRONTIERS IN GENETICS（2024）

引用 4|浏览58
关键词
DHCR24,desmosterolosis,genotype-phenotype correlation,structural biology,medical genetics,bioinformatics
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