Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.D2166Splc
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FBN1

NM_000138.5:p.D2166Splc

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

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

34281902 (PubMed )
Supplement: bjophthalmol-2021-319084supp003.pdf

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Subramanian DN et al.

Nature Communications, 2020

32242007 (PubMed )
Supplement: 41467_2020_15461_MOESM4_ESM.xlsx › Data_1

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

Campens L et al.

Orphanet Journal of Rare Diseases, 2015

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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."