Varaico: Literature-Extracted Genetic Variants

Gene:FBLN5
Variant:p.R173H
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FBLN5

NM_006329.4:p.R173H

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

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

Gharesouran J et al.

Orphanet Journal of Rare Diseases, 2021

Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family.

Tekedereli I et al.

Clinical Dysmorphology, 2019

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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."