Varaico: Literature-Extracted Genetic Variants

Gene:FBN2
Variant:p.G2192E
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FBN2

NM_001999.4:p.G2192E

Associated Papers

Synostosis of joints caused by mutant FBN2 is linked to the abnormalities and misdifferentiation of articular surface cells.

Deng M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

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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."