Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes
Author:
Affiliation:
1. Division of Evolution and Genomic Science, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Science Centre, School of Biological Sciences University of Manchester Manchester UK
Funder
U.S. Army Medical Research Acquisition Activity
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24261
Reference251 articles.
1. NF1 mutation analysis using a combined heteroduplex/SSCP approach
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5. A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity.
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3. Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1;Human Genetics;2022-08-09
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