Genotype-Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated...
Genotype-Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 [19a]
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Publisher
Switzerland: MDPI AG
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Language
English
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Switzerland: MDPI AG
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Contents
Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder caused by loss-of-function variants in the
gene. As of 20 November 2023, over 5000 distinct pathogenic or likely pathogenic variants have been reported in public databases. However, only a few
genotype-phenotype correlations have been established so far. In this s...
Alternative Titles
Full title
Genotype-Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 [19a]
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TN_cdi_proquest_journals_3078991654
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_3078991654
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ISSN
2072-6694
E-ISSN
2072-6694
DOI
10.3390/cancers16132406
