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Identification of a Novel Homozygous SLC34A1 Missense Mutation and a Heterozygous SLC34A3 Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia.

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Title: Identification of a Novel Homozygous SLC34A1 Missense Mutation and a Heterozygous SLC34A3 Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia.
Authors: Mura-Escorche, Glorián1 (AUTHOR), García-Suarez, Leire C.2 (AUTHOR), Lebredo-Álvarez, Isis3 (AUTHOR), Ramos-Trujillo, Elena1,4 (AUTHOR), Claverie-Martin, Felix1 (AUTHOR)
Source: International Journal of Molecular Sciences. Sep2025, Vol. 26 Issue 17, p8541. 15p.
Database: Academic Search Ultimate
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  Data: Identification of a Novel Homozygous SLC34A1 Missense Mutation and a Heterozygous SLC34A3 Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia.
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  Data: <searchLink fieldCode="AR" term="%22Mura-Escorche%2C+Glorián%22">Mura-Escorche, Glorián</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22García-Suarez%2C+Leire+C%2E%22">García-Suarez, Leire C.</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lebredo-Álvarez%2C+Isis%22">Lebredo-Álvarez, Isis</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ramos-Trujillo%2C+Elena%22">Ramos-Trujillo, Elena</searchLink><relatesTo>1,4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Claverie-Martin%2C+Felix%22">Claverie-Martin, Felix</searchLink><relatesTo>1</relatesTo> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22International+Journal+of+Molecular+Sciences%22">International Journal of Molecular Sciences</searchLink>. Sep2025, Vol. 26 Issue 17, p8541. 15p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=187983916
RecordInfo BibRecord:
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      – Type: doi
        Value: 10.3390/ijms26178541
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      – Code: eng
        Text: English
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      Pagination:
        PageCount: 15
        StartPage: 8541
    Titles:
      – TitleFull: Identification of a Novel Homozygous SLC34A1 Missense Mutation and a Heterozygous SLC34A3 Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia.
        Type: main
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          Name:
            NameFull: Mura-Escorche, Glorián
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          Name:
            NameFull: García-Suarez, Leire C.
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            NameFull: Lebredo-Álvarez, Isis
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          Name:
            NameFull: Ramos-Trujillo, Elena
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          Name:
            NameFull: Claverie-Martin, Felix
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          Dates:
            – D: 01
              M: 09
              Text: Sep2025
              Type: published
              Y: 2025
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              Value: 16616596
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              Value: 26
            – Type: issue
              Value: 17
          Titles:
            – TitleFull: International Journal of Molecular Sciences
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