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Low-coverage whole genome sequencing of sporadic schwannomatosis patients
Exome sequencing of sporadic schwannomatosis patients
Schwannomatosis (MIM #162091) is characterized by the development of multiple schwannomas without vestibular nerve involvement (which is a characteristic of neurofibromatosis type 2 - NF2). In an effort to detect novel genetic alterations predisposing to schwannomatosis, we sequenced eight tumor-blo...
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