Varaico: Literature-Extracted Genetic Variants

Gene:FBLN5
Variant:p.L279L
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FBLN5

NM_006329.4:p.L279L

Associated Papers

Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation.

Hoyer J et al.

Clinical Genetics, 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."