Article

Integrating population variation and protein structural analysis to improve the clinical genetic diagnosis and treatment in children with congenital nephrogenic diabetes insipidus

2020-05-13

Abstract excerpt

<title>Abstract</title> <p><bold>Background and Objectives: </bold>Congenital nephrogenic diabetes insipidus (NDI) is a rare genetic disorder characterized by renal inability to concentrate urine. Establishing the genetic diagnosis appears particularly important to NDI for early detection and differential diagnosis.<bold>Method:</bold> We utilized a Chinese multicenter registry to investigate genotype and phenoty...

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Literature Corpus work: b43dc5a8-5150-562a-ab19-a5621b7b572e
DOI: 10.21203/rs.3.rs-28437/v1

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