# Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/mutations-in-invs-encoding-inversin-cause-nephronophthisis-type-2-linking-renal/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Edgar A. Otto,Bernhard Schermer,Tomoko Obara,John F. O’Toole,Karl S. Hiller,Adelheid M. Mueller,Rainer Ruf,Julia Hoefele,Frank Beekmann,Daniel Landau,John W. Foreman,Judith A. Goodship,Tom Strachan,Andreas Kispert,Matthias T. F. Wolf,M. F. Gagnadoux,Hubert Nivet,Corinne Antignac,Gerd Walz,Iain A. Drummond,Thomas Benzing,Friedhelm Hildebrandt |
| Citations | 651 |
| DOI | 10.1038/ng1217 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | green |
| OA URL | https://www.ncbi.nlm.nih.gov/pmc/articles/3732175 |
| OpenAlex ID | https://openalex.org/W2049335442 |
| PMID | 12872123 |
| Type | article |
| Year | 2003 |

## Paper authors

- [Gerd Walz](https://scholariq.org/researchers/gerd-walz/)
- [Thomas Benzing](https://scholariq.org/researchers/thomas-benzing/)
- [Julia Hoefele](https://scholariq.org/researchers/julia-hoefele/)
- [Corinne Antignac](https://scholariq.org/researchers/corinne-antignac/)

## 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/)
- [Fetal and Pediatric Neurological Disorders](https://scholariq.org/topics/fetal-and-pediatric-neurological-disorders/)

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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.