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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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https://hal-normandie-univ.archives-ouvertes.fr/hal-02336138
Contributor : Alexandra Martins Connect in order to contact the contributor
Submitted on : Monday, October 28, 2019 - 4:36:13 PM
Last modification on : Friday, May 20, 2022 - 11:06:08 AM

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Pascaline Gaildrat, Saïd Lebbah, Abdellah Tebani, Bénédicte Sudrié-Arnaud, Isabelle Tostivint, et al.. Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants. Molecular Genetics & Genomic Medicine, Wiley Periodicals, Inc. 2017, 5 (4), pp.373-389. ⟨10.1002/mgg3.294⟩. ⟨hal-02336138⟩

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