Exploiting <i>in silico</i> structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study.

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第一作者： Dario,Cocciadiferro

第一单位： Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

作者： Dario,Cocciadiferro ^[1] ; Tommaso,Mazza ^[2] ; Davide,Vecchio ^[3] ; Tommaso,Biagini ^[2] ; Francesco,Petrizzelli ^[2] ; Emanuele,Agolini ^[1] ; Andrea,Villani ^[1] ; Daniele,Minervino ^[2] ; Diego,Martinelli ^[1] ; Cristiano,Rizzo ^[4] ; Sara,Boenzi ^[4] ; Filippo Maria,Panfili ^[4] ; Paola Sabrina,Buonuomo ^[3] ; Marina,Macchiaiolo ^[3] ; Andrea,Bartuli ^[3] ; Antonio,Novelli ^[3]

作者单位： Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. ^[1] Bioinformatics Unit, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Italy. ^[2] Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. ^[3] Division of Metabolic Diseases, Bambino Gesù Children's Hospital IRCCS, Rome, Italy. ^[4]

关键词 DHCR24 bioinformatics desmosterolosis genotype–phenotype correlation medical genetics structural biology

DOI 10.3389/fgene.2023.1307934

PMID 38239854

发布时间 2024-01-21

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Frontiers in genetics

2023年14卷

1307934页

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Exploiting <i>in silico</i> structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study.

Frontiers in genetics

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Frontiers in genetics

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Exploiting <i>in silico</i> structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study.

Frontiers in genetics

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Frontiers in genetics

相关期刊

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