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Comment
. 2015 Nov;23(11):1460-1.
doi: 10.1038/ejhg.2015.93. Epub 2015 May 13.

Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1

Claudia Santoro  1 , Anna Maietta  1 , Teresa Giugliano  2 , Daniela Melis  3 , Silverio Perrotta  1 , Vincenzo Nigro  2   4 , Giulio Piluso  2
Affiliations
Comment

Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1

Claudia Santoro et al. Eur J Hum Genet. 2015 Nov.
No abstract available

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References

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    1. 2Cawthon RM, Weiss R, Xu GF et al: A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 1990; 62: 193–201. - PubMed
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    1. 4Pasmant E, Sabbagh A, Spurlock G et al: NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat 2010; 31: E1506–E1518. - PubMed
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