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Springer (part of Springer Nature), Human Genetics, 5(117), p. 460-466

DOI: 10.1007/s00439-005-1318-8

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A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy

This paper is available in a repository.
This paper is available in a repository.

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