# Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/specifications-of-the-acmg-amp-variant-curation-guidelines-for-myocilin/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Kathryn P. Burdon,Patricia Graham,Johanna Hadler,John D. Hulleman,Francesca Pasutto,Erin A. Boese,Jamie E. Craig,John H. Fingert,Alex W. Hewitt,Owen M. Siggs,Kristina N. Whisenhunt,Terri L. Young,David A. Mackey,Andrew Dubowsky,Emmanuelle Souzeau |
| Citations | 29 |
| DOI | 10.1002/humu.24482 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | hybrid |
| OA URL | https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.24482 |
| OpenAlex ID | https://openalex.org/W4304182620 |
| PMID | 36217948 |
| Type | article |
| Year | 2022 |

## Paper authors

- [Erin A. Boese](https://scholariq.org/researchers/erin-a-boese/)

## Paper primary topic

- [Glaucoma and retinal disorders](https://scholariq.org/topics/glaucoma-and-retinal-disorders/)

## Paper topics

- [Glaucoma and retinal disorders](https://scholariq.org/topics/glaucoma-and-retinal-disorders/)
- [Retinal Diseases and Treatments](https://scholariq.org/topics/retinal-diseases-and-treatments/)
- [Ubiquitin and proteasome pathways](https://scholariq.org/topics/ubiquitin-and-proteasome-pathways/)

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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.