Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory
Author:
Funder
European Commission
Emma and Ernesto Rulfo Association for Medical Genetics
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference27 articles.
1. Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the clinical sequencing exploratory research consortium;Amendola;Am. J. Hum. Genet.,2016
2. Patterns of novel alleles and genotype/phenotype correlations resulting from the analysis of 108 previously undetected mutations in patients affected by neurofibromatosis type I;Bonatti;Int. J. Mol. Sci.,2017
3. Reinterpretation of sequence variants: one diagnostic laboratory's experience, and the need for standard guidelines;Chisholm;Genet. Med.,2018
4. NCCN guidelines insights: genetic/familial high-risk assessment: breast and ovarian, version 2;Daly;J. Natl. Compr. Cancer Netw.,2017
5. HGVS recommendations for the description;Den Dunnen;of Sequence Variants,2016
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1. Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype;Frontiers in Genetics;2024-03-26
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