# Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/exome-sequencing-identifies-a-de-novo-mutation-of-ctnnb1-gene-in-a-patient/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Niu Li,Yufei Xu,Guoqiang Li,Tingting Yu,Ruen Yao,Xiumin Wang,Jian Wang |
| Citations | 47 |
| DOI | 10.1097/md.0000000000006914 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | gold |
| OA URL | https://doi.org/10.1097/md.0000000000006914 |
| OpenAlex ID | https://openalex.org/W2614379891 |
| PMID | 28514307 |
| Type | article |
| Year | 2017 |

## Paper authors

- [Niu Li](https://scholariq.org/researchers/niu-li/)
- [Tingting Yu](https://scholariq.org/researchers/tingting-yu/)

## Paper journal

- [Medicine](https://scholariq.org/journals/medicine/)

## Paper primary topic

- [Wnt/β-catenin signaling in development and cancer](https://scholariq.org/topics/wnt-catenin-signaling-in-development-and-cancer/)

## Paper topics

- [Wnt/β-catenin signaling in development and cancer](https://scholariq.org/topics/wnt-catenin-signaling-in-development-and-cancer/)
- [Proteoglycans and glycosaminoglycans research](https://scholariq.org/topics/proteoglycans-and-glycosaminoglycans-research/)
- [HER2/EGFR in Cancer Research](https://scholariq.org/topics/her2-egfr-in-cancer-research/)

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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.