# An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/an-absence-of-cutaneous-neurofibromas-associated-with-a-3-bp-inframe-deletion-in/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Meena Upadhyaya,Susan Huson,D. M. Davies,N S Thomas,Nadia Chuzhanova,Sara Giovannini,D. Gareth Evans,Elizabeth Howard,Bronwyn Kerr,S. W. Griffiths,Claudia Consoli,Lucy Side,Darius J. Adams,Mary Ella Pierpont,Rachel K. Hachen,Angela Barnicoat,H. Li,P L Wallace,J.P. Van Biervliet,David A. Stevenson,David Viskochil,Diana Baralle,Eric Haan,Vincent M. Riccardi,Peter D. Turnpenny,Conxi Lázaro,Ludwine Messiaen |
| Citations | 364 |
| DOI | 10.1086/510781 |
| Fields | Medicine |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S0002929707609288/pdf |
| OpenAlex ID | https://openalex.org/W2044976670 |
| PMID | 17160901 |
| Type | article |
| Year | 2006 |

## Paper authors

- [Conxi Lázaro](https://scholariq.org/researchers/conxi-lazaro/)

## Paper primary topic

- [Neurofibromatosis and Schwannoma Cases](https://scholariq.org/topics/neurofibromatosis-and-schwannoma-cases/)

## Paper topics

- [Neurofibromatosis and Schwannoma Cases](https://scholariq.org/topics/neurofibromatosis-and-schwannoma-cases/)
- [Soft tissue tumor case studies](https://scholariq.org/topics/soft-tissue-tumor-case-studies/)
- [Sarcoma Diagnosis and Treatment](https://scholariq.org/topics/sarcoma-diagnosis-and-treatment/)

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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.