New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome-Reference-Cited by-同舟云学术

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New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome

Published:2014 Issue:1 Volume:15 Page:74
ISSN:1471-2156
Container-title:BMC Genetics
language:en
Short-container-title:BMC Genet

Author:

Yang Ren-Qiang,Jabbari Javad,Cheng Xiao-Shu,Jabbari Reza,Nielsen Jonas B,Risgaard Bjarke,Chen Xu,Sajadieh Ahmad,Haunsø Stig,Svendsen Jesper,Olesen Morten S,Tfelt-Hansen Jacob

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

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1. Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines;Annals of Laboratory Medicine;2023-10-16

2. Whole-exome sequencing identifies FANC heterozygous germline mutation as an adverse factor for immunosuppressive therapy in Chinese aplastic anemia patients aged 40 or younger: a single-center retrospective study;Annals of Hematology;2023-01-09

3. Genomic Screening: The Mutation and the Mustard Seed;Journal of Law, Medicine & Ethics;2018

4. Marfan Syndrome;Aneurysms-Osteoarthritis Syndrome;2017

5. WES/WGS Reporting of Mutations from Cardiovascular “Actionable” Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases;Human Mutation;2016-10-10

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