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Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing

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Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

(2016) Josephina A.N. Meester et al.   GENETICS IN MEDICINE

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

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Dilation of the Aorta Ascendens Forms Part of the Clinical Spectrum of HCN4 Mutations

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Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations

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(2016) Monkol Lek et al.   NATURE

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The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys–Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)

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Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition

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Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

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Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease

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Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

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UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity-application to four genes:FBN1,FBN2,TGFBR1, andTGFBR2

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Mutation ofACTA2gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD)

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

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Human Splicing Finder: an online bioinformatics tool to predict splicing signals

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