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A 37-year-old woman with schwannomatosis, who has undergone 10 neurosurgical procedures: the first case in Poland with the SMARC1B gene mutation.

Polish archives of internal medicine - 29 Nov 2023

Zięba Sara, Czapiga Bogdan, Gajdzis Paweł, Bladowska Joanna

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Identifiers

PMID: 37795838
DOI: 10.20452/pamw.16577

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A 37-year-old woman with schwannomatosis, who has undergone 10 neurosurgical procedures: the first case in Poland with the SMARC1B gene mutation.PMID 37795838Read ↗

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Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants.Semantic proximity Read ↗

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SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis.Semantic proximity Read ↗

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