Varaico: Literature-Extracted Genetic Variants

Gene:C6
Variant:p.D253E
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C6

NM_000065.5:p.D253E

Associated Papers

Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

Robertson SP et al.

American Journal of Medical Genetics. Part A, 2006

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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."