Varaico: Literature-Extracted Genetic Variants

Gene:FBLN5
Variant:p.E391*
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FBLN5

NM_006329.4:p.E391*

Associated Papers

FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature.

Tekmenuray-Unal A et al.

Molecular Syndromology, 2023

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

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

Callewaert B et al.

Human Mutation, 2013

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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."