Article ID Journal Published Year Pages File Type
5589377 Gene 2017 22 Pages PDF
Abstract
We describe two patients with classic clinical manifestations of CGL2 confirmed by genetic sequence analysis. A novel variant in BSCL2 gene was detected in one patient (c.713G > A/p.Gly238Asp).
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Genetics
Authors
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