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Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2015, Volume 10, Issue Suppl 1, p. O2
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Human Mutation, ISSN 1059-7794, 04/2015, Volume 36, Issue 4, pp. 395 - 402
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Nature, ISSN 0028-0836, 10/2015, Volume 526, Issue 7575, pp. 710 - 714
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