Varaico: Literature-Extracted Genetic Variants

Gene:FBLN5
Variant:p.Q124P
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FBLN5

NM_006329.4:p.Q124P

Associated Papers

Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations.

Safka Brozkova D et al.

European Journal of Neurology, 2020

Roles of short fibulins, a family of matricellular proteins, in lung matrix assembly and disease.

Nakamura T

Matrix Biology : Journal of the International Society for Matrix Biology, 2018

Highly penetrant alleles in age-related macular degeneration.

den Hollander AI et al.

Cold Spring Harbor Perspectives in Medicine, 2014

Cuticular drusen: stars in the sky.

Boon CJ et al.

Progress in Retinal and Eye Research, 2013

Translational attenuation differentially alters the fate of disease-associated fibulin proteins.

Hulleman JD et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2012

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.

Auer-Grumbach M et al.

Brain : a Journal of Neurology, 2011

Unraveling the mechanism of elastic fiber assembly: The roles of short fibulins.

Yanagisawa H et al.

The International Journal of Biochemistry & Cell Biology, 2010

Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.

Jones RP et al.

Investigative Ophthalmology & Visual Science, 2010

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

Yanagisawa H et al.

Journal of Cell Communication and Signaling, 2009

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

Lotery AJ et al.

Human Mutation, 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."