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Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 09/2018, Volume 13, Issue 1, pp. 170 - 170
Journal Article
Human mutation, ISSN 1059-7794, 07/2011, Volume 32, Issue 7, pp. 760 - 772
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 01/2016, Volume 170, Issue 1, pp. 77 - 86
Journal Article
Journal Article