Varaico: Literature-Extracted Genetic Variants

Gene:FBLN5
Variant:p.D247Splc
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FBLN5

NM_006329.4:p.D247Splc

Associated Papers

Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes.

Scherrer DZ et al.

American Journal of Medical Genetics. Part A, 2008

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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."