Associated Papers
Myopathic Ehlers-Danlos Syndrome (mEDS) Related to COL12A1: Two Novel Families and Literature Review.
Merlini L et al.
International Journal of Molecular Sciences, 2025
Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.
McCarty RM et al.
Annals of Clinical and Translational Neurology, 2025
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
De La Vega FM et al.
Genome Medicine, 2021
34645491 (PubMed )
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