Varaico: Literature-Extracted Genetic Variants

Gene:FBN2
Variant:p.D1408N
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FBN2

NM_001999.4:p.D1408N

Associated Papers

Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families.

Sui Y et al.

Molecular Genetics and Metabolism Reports, 2024

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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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."