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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FBLN5

Variant:p.C245C

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FBLN5

NM_006329.4:p.C245C

hg38:chr14:91887197 G>A

Associated Papers

Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.

Lotery AJ et al.

Human Mutation, 2006

16652333 (PubMed )

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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."