Varaico: Literature-Extracted Genetic Variants

Gene:AEBP1
Variant:p.V708fs
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AEBP1

NM_001129.5:p.V708fs

Associated Papers

Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2?

Di Giosaffatte N et al.

Genes, 2022

36553625 (PubMed )
Supplement: genes-13-02358-s001.zip › genes-2101216-supplementary.xlsx › proband
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