Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.C2605R
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FBN1

NM_000138.5:p.C2605R

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

Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.

Yagyu T et al.

Journal of the American Heart Association, 2023

37042257 (PubMed )
Supplement: JAH3-12-e028625-s001.pdf

Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.

Rommel K et al.

Human Mutation, 2005

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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."