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SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

BACKGROUND: Schwannomatosis is a disease characterized by multiple non-vestibular schwannomas. Although biallelic NF2 mutations are found in schwannomas, no germ line event is detected in schwannomatosis patients. In contrast, germline mutations of the SMARCB1 (INI1) tumor suppressor gene were descr...

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Библиографические подробности
Главные авторы: Rousseau, Guillaume, Noguchi, Tetsuro, Bourdon, Violaine, Sobol, Hagay, Olschwang, Sylviane
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2011
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3037869/
https://ncbi.nlm.nih.gov/pubmed/21255467
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2377-11-9
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