Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.C209Y
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FBN1

NM_000138.5:p.C209Y

Associated Papers

Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility.

Murad AM et al.

American Journal of Medical Genetics. Part A, 2022

Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.

Weerakkody R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

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

Yang RQ et al.

Bmc Genetics, 2014

24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx

The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome.

Rybczynski M et al.

American Journal of Medical Genetics. Part A, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."