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Point mutation
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===Neurofibromatosis=== [[Neurofibromatosis]] is caused by point mutations in the [[Neurofibromin 1]]<ref name="pmid11409870">{{Cite journal | pmid = 11409870 | doi = 10.1007/s004390100514 | year = 2001 | last1 = Serra | first1 = E | title = Somatic NF1 mutational spectrum in benign neurofibromas: MRNA splice defects are common among point mutations | journal = Human Genetics | volume = 108 | issue = 5 | pages = 416–29 | last2 = Ars | first2 = E | last3 = Ravella | first3 = A | last4 = Sánchez | first4 = A | last5 = Puig | first5 = S | last6 = Rosenbaum | first6 = T | last7 = Estivill | first7 = X | last8 = Lázaro | first8 = C | s2cid = 2136834 }}</ref><ref name="pmid14635100">{{Cite journal | pmid = 14635100 | year = 2003 | last1 = Wiest | first1 = V | title = Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: Toward a theory of genetic modifiers | journal = Human Mutation | volume = 22 | issue = 6 | pages = 423–7 | last2 = Eisenbarth | first2 = I | last3 = Schmegner | first3 = C | last4 = Krone | first4 = W | last5 = Assum | first5 = G | doi = 10.1002/humu.10272 | s2cid = 22140210 | doi-access = free }}</ref> or [[Neurofibromin 2]] gene.<ref name="pmid12011146">{{Cite journal | pmid = 12011146 | pmc = 1735110 | year = 2002 | last1 = Mohyuddin | first1 = A | title = Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas | journal = Journal of Medical Genetics | volume = 39 | issue = 5 | pages = 315–22 | last2 = Neary | first2 = W. J. | last3 = Wallace | first3 = A | last4 = Wu | first4 = C. L. | last5 = Purcell | first5 = S | last6 = Reid | first6 = H | last7 = Ramsden | first7 = R. T. | last8 = Read | first8 = A | last9 = Black | first9 = G | last10 = Evans | first10 = D. G. | doi=10.1136/jmg.39.5.315 }}</ref>
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