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Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.

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Title: Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.
Authors: Gaildrat, Pascaline1, Lebbah, Said2, Tebani, Abdellah1,3, Sudrié‐Arnaud, Bénédicte3, Tostivint, Isabelle4, Bollee, Guillaume2, Tubeuf, Hélène1,5, Charles, Thomas6, Bertholet‐Thomas, Aurelia7, Goldenberg, Alice8, Barbey, Frederic9, Martins, Alexandra1, Saugier‐Veber, Pascale1,8, Frébourg, Thierry1,8, Knebelmann, Bertrand2, Bekri, Soumeya1,3 soumeya.bekri@chu-rouen.fr
Source: Molecular Genetics & Genomic Medicine. Jul2017, Vol. 5 Issue 4, p373-389. 17p.
Database: Academic Search Ultimate
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  Data: <searchLink fieldCode="JN" term="%22Molecular+Genetics+%26+Genomic+Medicine%22">Molecular Genetics & Genomic Medicine</searchLink>. Jul2017, Vol. 5 Issue 4, p373-389. 17p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=124130456
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        Value: 10.1002/mgg3.294
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        Text: English
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              Text: Jul2017
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