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Profiling of Protein-Coding Missense Mutations in Mendelian Rare Diseases: Clues from Structural Bioinformatics.

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Title: Profiling of Protein-Coding Missense Mutations in Mendelian Rare Diseases: Clues from Structural Bioinformatics.
Authors: Visibelli, Anna1 (AUTHOR), Finetti, Rebecca1,2 (AUTHOR), Niccolai, Piero2,3 (AUTHOR), Trezza, Alfonso1 (AUTHOR), Spiga, Ottavia1,2,3 (AUTHOR), Santucci, Annalisa1,3 (AUTHOR) annalisa.santucci@unisi.it, Niccolai, Neri1,2 (AUTHOR)
Source: International Journal of Molecular Sciences. May2025, Vol. 26 Issue 9, p4072. 13p.
Database: Academic Search Ultimate
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An: 185132050
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  Data: Profiling of Protein-Coding Missense Mutations in Mendelian Rare Diseases: Clues from Structural Bioinformatics.
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  Data: <searchLink fieldCode="AR" term="%22Visibelli%2C+Anna%22">Visibelli, Anna</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Finetti%2C+Rebecca%22">Finetti, Rebecca</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Niccolai%2C+Piero%22">Niccolai, Piero</searchLink><relatesTo>2,3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Trezza%2C+Alfonso%22">Trezza, Alfonso</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Spiga%2C+Ottavia%22">Spiga, Ottavia</searchLink><relatesTo>1,2,3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Santucci%2C+Annalisa%22">Santucci, Annalisa</searchLink><relatesTo>1,3</relatesTo> (AUTHOR)<i> annalisa.santucci@unisi.it</i><br /><searchLink fieldCode="AR" term="%22Niccolai%2C+Neri%22">Niccolai, Neri</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22International+Journal+of+Molecular+Sciences%22">International Journal of Molecular Sciences</searchLink>. May2025, Vol. 26 Issue 9, p4072. 13p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=185132050
RecordInfo BibRecord:
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      – Type: doi
        Value: 10.3390/ijms26094072
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      – Code: eng
        Text: English
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      Pagination:
        PageCount: 13
        StartPage: 4072
    Titles:
      – TitleFull: Profiling of Protein-Coding Missense Mutations in Mendelian Rare Diseases: Clues from Structural Bioinformatics.
        Type: main
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            NameFull: Visibelli, Anna
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          Name:
            NameFull: Finetti, Rebecca
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            NameFull: Niccolai, Piero
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            NameFull: Trezza, Alfonso
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            NameFull: Spiga, Ottavia
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            NameFull: Santucci, Annalisa
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            NameFull: Niccolai, Neri
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            – D: 01
              M: 05
              Text: May2025
              Type: published
              Y: 2025
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              Value: 26
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              Value: 9
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            – TitleFull: International Journal of Molecular Sciences
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