Varaico: Literature-Extracted Genetic Variants

Gene:FLNA
Variant:p.A273P
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FLNA

NM_001110556.2:p.A273P

Associated Papers

Crystal structure of the filamin N-terminal region reveals a hinge between the actin binding and first repeat domains.

Sawyer GM et al.

Journal of Molecular Biology, 2012

Structure of the human filamin A actin-binding domain.

Ruskamo S et al.

Acta Crystallographica. Section D, Biological Crystallography, 2009

The new bone biology: pathologic, molecular, and clinical correlates.

Cohen MM

American Journal of Medical Genetics. Part A, 2006

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

Robertson SP et al.

Nature Genetics, 2003

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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."