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Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia

Journal Article published 21 Nov 2017 in Clinical Genetics volume 93 issue 1 on pages 182 to 186

Research funded by Vetenskapsrådet (2015-02424) | Uppsala Universitet | Higher Education Commission, Pakistan | Svenska Sällskapet för Medicinsk Forskning

Authors: M. Tariq, T.N. Khan, L. Lundin, M. Jameel, T. Lönnerholm, S.M. Baig, N. Dahl, J. Klar