Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.T241delFs
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FBN1

NM_000138.5:p.T241delFs

Associated Papers

Clinical and Genetic Landscape of Ectopia Lentis Based on a Cohort of Patients From 156 Families.

Guo D et al.

Investigative Ophthalmology & Visual Science, 2024

38190127 (PubMed )
Supplement: iovs-65-1-20_s002.pdf

Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.

Sun W et al.

Investigative Ophthalmology & Visual Science, 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."