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Phenotypic and clinical implications of variants in the dih..:

Kuilenburg, André B.P. van ; Meijer, Judith ; Tanck, Michael W.T....
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1862 (2016)  4 - p. 754-762 , 2016
Link: https://doi.org/10.1016/j.bbadis.2016.01.009