Novel IGFALS mutations with predicted pathogenetic effects by the analysis of AlphaFold structure

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作者： Alessandra,Franzoni ^[1] ; Federica,Baldan ^[2] ; Nadia,Passon ^[3] ; Catia,Mio ^[4] ; Daniela,Driul ^[5] ; Paola,Cogo ; Federico,Fogolari ; Federica,D’Aurizio ; Giuseppe,Damante

作者单位： SOC Istituto di Genetica Medica, Azienda Sanitaria Universitaria Friuli Centrale Udine ^[1] Dipartimento di Area Medica,Università di Udine ^[2] SOC Clinica Pediatrica,Azienda Ospedaliero-Universitaria ^[3] Dipartimento di Scienze matematiche, Informatiche e Fisiche,Università di Udine ^[4] SOC Istituto di Patologia Clinica Azienda Sanitaria Universitaria Friuli Centrale Udine ^[5]

关键词 IGFALS Mutation Short stature Exome

发布时间 2023-09-01

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Endocrine.

2023年79卷2期

292-295页

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Novel IGFALS mutations with predicted pathogenetic effects by the analysis of AlphaFold structure

Endocrine.

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Novel IGFALS mutations with predicted pathogenetic effects by the analysis of AlphaFold structure

Endocrine.

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Endocrine.

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