Varaico: Literature-Extracted Genetic Variants

Gene:AEBP1
Variant:p.N490fs
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AEBP1

NM_001129.5:p.N490fs

Associated Papers

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.

Blackburn PR et al.

American Journal of Human Genetics, 2018

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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."