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Natera-de Benito D, Jurgens JA, Yeung A, Zaharieva IT, et al. Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder. Hum Mutat 2022 Jan 25. doi: 10.1002/humu.24333.
PMID: 35077597


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