Novel germline and somatic variants in familial and sporadic meningioma genes
Novel germline and somatic variants in familial and sporadic meningioma genes
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Author / Creator
Bencheikh, Bouchra Ouled Amar , Dilliott, Allison A. , Gauthier, Julie , Laurent, Sandra Beatrice , Ambalavanan, Amirthagowri , Spiegelman, Dan , Dionne-Laporte, Alexandre , Lyahyai, Jaber , Martuza, Robert L. , Sieb, Jörn P. , Farhan, Sali M. K. , Dion, Patrick A. , Pulst, Stefan-M. and Rouleau, Guy A.
Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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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
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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
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ISSN
2056-7944
E-ISSN
2056-7944
DOI
10.1038/s41525-025-00494-4