Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.C993*
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FBN1

NM_000138.5:p.C993*

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

Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List.

Huang Y et al.

Journal of Personalized Medicine, 2022

36143288 (PubMed )
Supplement: jpm-12-01503-s001.zip › jpm-1809294-supplementary.xlsx › Truncating
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