# Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/identification-of-99-novel-mutations-in-a-worldwide-cohort-of-1-056-patients/

## Facts

| Field | Value |
| --- | --- |
| Author Names | The GPN Study Group,Jan Halbritter,Jonathan D. Porath,Katrina A. Diaz,Daniela A. Braun,Stefan Kohl,Moumita Chaki,Susan J. Allen,Neveen A. Soliman,Friedhelm Hildebrandt,Edgar A. Otto |
| Citations | 236 |
| DOI | 10.1007/s00439-013-1297-0 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W2009022368 |
| PMID | 23559409 |
| Type | article |
| Year | 2013 |

## Paper authors

- [Jan Halbritter](https://scholariq.org/researchers/jan-halbritter/)

## Paper primary topic

- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)

## Paper topics

- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)
- [Renal and related cancers](https://scholariq.org/topics/renal-and-related-cancers/)
- [Genetic Syndromes and Imprinting](https://scholariq.org/topics/genetic-syndromes-and-imprinting/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.