Varaico: Literature-Extracted Genetic Variants

Gene:FBN2
Variant:p.C1246F
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FBN2

NM_001999.4:p.C1246F

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

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

Sun L et al.

Frontiers in Genetics, 2022

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.

Callewaert BL et al.

Human Mutation, 2009

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