Relationship between clinical phenotype and in vitro analysis of 13 npt2c/scl34a3 mutants

HIGHLIGHTS

• who: Franu00e7ois Brazier from the Universitu00e9 have published the research: Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants, in the Journal: Scientific Reports Scientific Reports
• what: To better understand the responsibility of SLC34A3 pathogenic variants in the phenotype of patients with renal phosphate leak or recurrent urolithiasis, the aim of this study was to analyze the consequences of 13 identified SLC34A3 variants on NPT2c phosphate transport capacity. By contrast, the study has enabled the reclassification of some uncertain signification variants (class 3 ACMG).
• how: These genes were sequenced . . .
  

   

  

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