Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.C2142R
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FBN1

NM_000138.5:p.C2142R

Associated Papers

Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria.

Shin JH et al.

European Journal of Human Genetics : Ejhg, 2025

40169830 (PubMed )
Supplement: 41431_2025_1826_MOESM3_ESM.xlsx › Supplementary_Table_2

Association of modifiers and other genetic factors explain Marfan syndrome clinical variability.

Aubart M et al.

European Journal of Human Genetics : Ejhg, 2018

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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."