Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.C1159F
Back to variants list

FBN1

NM_000138.5:p.C1159F

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

Genetic landscape and ocular biometric correlations in microspherophakia: insights from a comprehensive patient cohort.

Liu Y et al.

Human Genomics, 2025

Genotype Impacts Axial Length Growth in Pseudophakic Eyes of Marfan Syndrome.

Chen ZX et al.

Investigative Ophthalmology & Visual Science, 2023

37477931 (PubMed )
Supplement: iovs-64-10-28_s005.pdf

Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis.

Chen Z et al.

The British Journal of Ophthalmology, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."