Varaico: Literature-Extracted Genetic Variants

Gene:FBN2
Variant:p.C1257R
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FBN2

NM_001999.4:p.C1257R

Associated Papers

Unsupervised learning reveals landscape of local structural motifs across protein classes.

Derry A et al.

Bioinformatics (oxford, England), 2025

40569048 (PubMed )
Supplement: btaf377_supplementary_data.zip › Supplementary_material_PDF.pdf

Case report: Identification of novel fibrillin-2 variants impacting disulfide bond and causing congenital contractural arachnodactyly.

Li AL et al.

Frontiers in Genetics, 2023

Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly.

Sun L et al.

Frontiers in Genetics, 2022

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.

Deng H et al.

Plos One, 2016

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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."