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Novel germline and somatic variants in familial and sporadic meningioma genes

Novel germline and somatic variants in familial and sporadic meningioma genes

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_2ce313f7fe314747bf10a626c6a5bd75

Novel germline and somatic variants in familial and sporadic meningioma genes

About this item

Full title

Novel germline and somatic variants in familial and sporadic meningioma genes

Publisher

London: Nature Publishing Group UK

Journal title

Npj genomic medicine, 2025-05, Vol.10 (1), p.41-9, Article 41

Language

English

Formats

Publication information

Publisher

London: Nature Publishing Group UK

More information

Scope and Contents

Contents

Meningiomas arise from arachnoid cells in the meninges surrounding the brain and spinal cord and are attributed to
NF2
pathogenic variants in
,
approximately 60% of cases. Using exome sequencing, we found heterozygous germline variants in nine potential novel meningioma genes across four families and four sporadic cases. We then screene...

Alternative Titles

Full title

Novel germline and somatic variants in familial and sporadic meningioma genes

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_2ce313f7fe314747bf10a626c6a5bd75

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_2ce313f7fe314747bf10a626c6a5bd75

Other Identifiers

ISSN

2056-7944

E-ISSN

2056-7944

DOI

10.1038/s41525-025-00494-4

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