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Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu
Author(s) -
Hammarsjö Anna,
Nordgren Ann,
LagerstedtRobinson Kristina,
Malmgren Helena,
Nilsson Daniel,
Wedrén Sara,
Nordenskjöld Magnus,
Nishimura Gen,
Grigelioniene Giedre
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37387
Subject(s) - proband , content (measure theory) , type (biology) , gene , genetics , computational biology , computer science , psychology , information retrieval , biology , mathematics , mutation , mathematical analysis , ecology