Article
A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2.
Human genetics - 1 Feb 1996
Kluwe L, Mautner V F
Abstract excerpt
Since the identification of the NF2 tumor suppressor gene in 1993, various mutations have been found in NF2-related tumors and in lymphocytes from NF2 patients. Most of the reported mutations result in truncated gene products. Missense mutations affecting the tumor suppressor are rare. These missense mutations would provide valuable information for the understanding of the function of the tumor suppressor, since...
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