Varaico: Literature-Extracted Genetic Variants

Gene:FBLN5
Variant:p.R284*
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FBLN5

NM_006329.4:p.R284*

Associated Papers

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.

Callewaert B et al.

Human Mutation, 2013

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

Auer-Grumbach M et al.

Brain : a Journal of Neurology, 2011

Cutis laxa: case report.

Nascimento GM et al.

Anais Brasileiros De Dermatologia, 0

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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."