Varaico: Literature-Extracted Genetic Variants

Gene:FBLN5
Variant:p.D56E
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FBLN5

NM_006329.4:p.D56E

Associated Papers

New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa.

Gharesouran J et al.

Orphanet Journal of Rare Diseases, 2021

Fibulin-5, an integrin-binding matricellular protein: its function in development and disease.

Yanagisawa H et al.

Journal of Cell Communication and Signaling, 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."