Autor: Smith, M. J., Evans, D. G.
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Alternative causative variants explain phenotypic severity in historical reports of NF2 missense variant carriers
Brief communicationNF2-related schwannomatosis (NF2-SWN) (NF2; MIM # 101000) is a neurogenetic condition caused by germline pathogenic variants in the NF2 gene. Affected individuals are predisposed to develop multiple tumours of the nervous system, par…
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Alternative causative variants explain phenotypic severity in historical reports of NF2 missense variant carriers
Brief communicationNF2-related schwannomatosis (NF2-SWN) (NF2; MIM # 101000) is a neurogenetic condition caused by germline pathogenic variants in the NF2 gene. Affected individuals are predisposed to develop multiple tumours of the nervous system, par…