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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AEBP1

Variant:p.V537_P544delFs

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AEBP1

NM_001129.5:p.V537_P544delFs

hg38:chr7:44111035 GGTGCTGGGGTGCTCTGTGGCCC>G

Associated Papers

Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome.

Ritelli M et al.

Genes, 2019

30759870 (PubMed )

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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."