Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.R545S
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FBN1

NM_000138.5:p.R545S

Associated Papers

Phenotype-driven clustering of ocular manifestations reveals prognostic and genetic heterogeneity in Marfan syndrome: a real-world longitudinal cohort study.

Shen X et al.

Journal of Translational Medicine, 2025

41331757 (PubMed )
Supplement: 12967_2025_7523_MOESM1_ESM.pdf

Corneal Biomechanics Are Associated With FBN1 Mutations in Patients With Marfan Syndrome and Ectopia Lentis.

Huo QY et al.

Investigative Ophthalmology & Visual Science, 2025

40062814 (PubMed )
Supplement: iovs-66-3-23_s003.pdf
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