# The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/the-type-of-variants-at-the-col3a1-gene-associates-with-the-phenotype-and/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Michael Frank,Juliette Albuisson,Brigitte Ranque,Lisa Golmard,Jean‐Michaël Mazzella,Laurence Bal-Theoleyre,Anne‐Laure Fauret,Tristan Mirault,Nicolas Denarié,Élie Mousseaux,Pierre Boutouyrie,Jean‐Noël Fiessinger,Joseph Emmerich,Emmanuel Messas,Xavier Jeunemaı̂tre |
| Citations | 240 |
| DOI | 10.1038/ejhg.2015.32 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | bronze |
| OA URL | https://www.nature.com/articles/ejhg201532.pdf |
| OpenAlex ID | https://openalex.org/W2030840013 |
| PMID | 25758994 |
| Type | article |
| Year | 2015 |

## Paper authors

- [Tristan Mirault](https://scholariq.org/researchers/tristan-mirault/)

## Paper journal

- [European Journal of Human Genetics](https://scholariq.org/journals/european-journal-of-human-genetics/)

## Paper primary topic

- [Connective tissue disorders research](https://scholariq.org/topics/connective-tissue-disorders-research/)

## Paper topics

- [Connective tissue disorders research](https://scholariq.org/topics/connective-tissue-disorders-research/)
- [Wnt/β-catenin signaling in development and cancer](https://scholariq.org/topics/wnt-catenin-signaling-in-development-and-cancer/)
- [Dermatological and Skeletal Disorders](https://scholariq.org/topics/dermatological-and-skeletal-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.