Varaico: Literature-Extracted Genetic Variants

Gene:FBN2
Variant:p.G1252D
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FBN2

NM_001999.4:p.G1252D

Associated Papers

A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly.

Babcock D et al.

Human Genetics, 1998

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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."