Article

Two novel mutations in TTC21B gene, c.497del and c.2323-3T>A, identified in a Chinese patient

2020-07-01

Abstract excerpt

<h4>Methods: </h4> A whole-exome sequencing end stage renal disease patient whose original renal disease is unknown. Swiss model predict the 3D structure of the protein. The related literature was searched by using search terms “NPHP” in PubMed CNKI and VIP database from January 2000 to January 2020. Results The whole exome by next-generation sequencing and found two unreported TTC21B mutation sites, c.497del (p...

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Literature Corpus work: c05b18b4-3876-5af3-999b-05134fe2021e
DOI: 10.21203/rs.3.rs-39200/v1

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