Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.G234del1
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FBN1

NM_000138.5:p.G234del1

Associated Papers

Intrinsic cardiomyopathy in pediatric Marfan syndrome: predictive factors and risk assessments.

Kneußel J et al.

Pediatric Research, 2025

39379624 (PubMed )
Supplement: 41390_2024_3613_MOESM1_ESM.xlsx › Sheet1

Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care.

Stark VC et al.

Genes, 2020

32679894 (PubMed )
Supplement: genes-11-00799-s001.zip › supplement_Data-variants.pdf
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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."