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Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.
Thauvin-Robinet, Christel; Franco, Brunella; Saugier-Veber, Pascale et al.
2008 • In Human Mutation, 30 (2), p. 320-9

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18-human mutation.pdf

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