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t/gene-fbn1

FBN1 gene

Discuss publications and research concerning the FBN1 gene.

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Related literature

[Clinical manifestation and analysis of FBN1 gene variants in eight patients with Marfan syndrome].
FBN1
Association Between JAK2 V617F Somatic Mutation and Thoracic Aortic Aneurysms.
FBN1
Integrated cardiac, endocrine, and genetic assessment in adolescent basketball players.
FBN1
Clinically Translatable Mutation-Based Biomarkers in Ascending Aortic Aneurysm: A Bibliometric Study.
FBN1
Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria.
FBN1
Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.
FBN1
Genetic Associations of Primary Angle-Closure Disease: A Systematic Review and Meta-Analysis.
FBN1
Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.
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A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome.
FBN1
Detection and a functional characterization of the novel FBN1 intronic mutation underlying Marfan syndrome: case presentation.
FBN1

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