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Article

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.

Nature genetics - 1 Mar 2013

Smith Miriam J, O'Sullivan James, Bhaskar Sanjeev S, Hadfield Kristen D, Poke Gemma, Caird John, Sharif Saba, Eccles Diana, Fitzpatrick David, Rawluk Daniel, du Plessis Daniel, Newman William G, Evans D Gareth

Abstract excerpt

One-third of all primary central nervous system tumors in adults are meningiomas. Rarely, meningiomas occur at multiple sites, usually occurring in individuals with type 2 neurofibromatosis (NF2). We sequenced the exomes of three unrelated individuals with familial multiple spinal meningiomas without NF2 mutations. We identified two individuals with heterozygous loss-of-function mutations in the SWI/SNF...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23377182
DOI: 10.1038/ng.2552

Genes

SMARCE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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