Varaico: Literature-Extracted Genetic Variants

Gene:AEBP1
Variant:p.V537L
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AEBP1

NM_001129.5:p.V537L

Associated Papers

Clinical and Molecular Characterization of a Novel Homozygous Frameshift Variant in AEBP1-Related Classical-like Ehlers Danlos Syndrome Type 2 with Comparison to Previously Reported Rare Cases.

Ha ZY et al.

Genes, 2024

38674395 (PubMed )
Supplement: genes-15-00461-s001.zip › genes-2928487-supplementary.pdf
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