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A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency
Lara-Velazquez, Montserrat, Perdomo-Pantoja, Alexander, Blackburn, Patrick R., Gass, Jennifer M., Caulfield, Thomas R., Atwal, Paldeep S.Volume:
5
Language:
english
Journal:
Molecular Genetics & Genomic Medicine
DOI:
10.1002/mgg3.322
Date:
November, 2017
File:
PDF, 821 KB
english, 2017