Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.A226V
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FBN1

NM_000138.5:p.A226V

Associated Papers

Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype-phenotype correlations in improving risk stratification-a literature review.

Stengl R et al.

Orphanet Journal of Rare Diseases, 2021

Genes and abdominal aortic aneurysm.

Hinterseher I et al.

Annals of Vascular Surgery, 2011

The molecular genetics of Marfan syndrome and related disorders.

Robinson PN et al.

Journal of Medical Genetics, 2006

Phenotypic variability of cardiovascular manifestations in Marfan Syndrome. Possible role of hyperhomocysteinemia and C677T MTHFR gene polymorphism.

Giusti B et al.

European Heart Journal, 2003

[AFBN1 gene in patients with Marfan syndrome].

Valiev RR et al.

Molekuliarnaia Biologiia, 0

Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency.

Kluijtmans LA et al.

European Journal of Human Genetics : Ejhg, 0

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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."