Varaico: Literature-Extracted Genetic Variants

Gene:AEBP1
Variant:p.E795fs
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AEBP1

NM_001129.5:p.E795fs

Associated Papers

Case report: further delineation of AEBP1-related Ehlers-Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literature.

Yamaguchi T et al.

Frontiers in Genetics, 2023

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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."