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Article

Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1

15 Nov 2019

Abstract excerpt

BACKGROUND: Neurofibromatosis type 1 (NF1) is characterized by an extreme clinical variability both within and between families that cannot be explained solely by the nature of the pathogenic NF1 gene mutations. A proposed model hypothesizes that variation in the levels of protein isoforms generated via alternative transcript processing acts as modifier and contributes to phenotypic variability. RESULTS: Here we...

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PMID: 31730495
DOI: 10.1186/s13023-019-1223-1

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