Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Contents
Neurofibromatosis type 1 (NF1) is caused by heterozygous mutation in the NF1 gene. NF1 is one of the most common human genetic diseases. However, the overall genotype-phenotype correlation has not been known, due to a wide spectrum of genotypic and phenotypic heterogeneity. Here we describe the detailed clinical and genetic features of 427 Korean N...
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Full title
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types
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TN_cdi_proquest_miscellaneous_2319487844
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2319487844
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-019-0695-0
