Varaico: Literature-Extracted Genetic Variants

Gene:FBLN5
Variant:p.E121D
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FBLN5

NM_006329.4:p.E121D

Associated Papers

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

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

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

Auer-Grumbach M et al.

Brain : a Journal of Neurology, 2011

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

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."