Varaico: Literature-Extracted Genetic Variants

Gene:AEBP1
Variant:p.P274fs
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AEBP1

NM_001129.5:p.P274fs

Associated Papers

Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants.

Angwin C 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."