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Product

Clinical Spectrum of Individuals With Pathogenic NF1 Missense Variants Affecting p.Met1149, p.Arg1276, and p.Lys1423: Genotype-Phenotype Study in Neurofibromatosis Type 1

Center:

OR-Oregon Institute on Development & Disability, UCEDD/LEND

Fiscal Year:

2020

Contact Information:

Kory Keller
[email protected]
503-494-2775

Product Description:

Comprehensive report on 281 people with neurofibromatosis type I due to specific, recurrent pathogenic variants. Noonan-like phenotype was common as were cardiovascular anomalies and spinal neurofibromas with some variants.

Keyword(s):

NF1, Neurofibromatosis, Neurofibromatosis type 1, genotype-phenotype

Product/Publication Type(s):

Peer-reviewed publications in scholarly journals Published/In Press

Target Audience:

Professionals

Alternative Format:

To Obtain Copies (URL or Email):

https://onlinelibrary.wiley.com/doi/full/10.1002/humu.23929

COVID-19 Related Data:

N/A

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