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srd5a3
- SRD5A3-congenital disorder of glycosylation (SRD5A3-CDG, formerly known as congenital disorder of glycosylation type Iq) is an inherited condition that causes ...
- The SRD5A3 gene provides instructions for making an enzyme called steroid 5-alpha reductase 3. This enzyme performs a ... 15 variants (also known as mutations) in the SRD5A3 gene have been found to cause SRD5A3-congenital ...
- ... Deaconess Medical Center Boston, Massachusetts Kristin Kantautas Cure SRD5A3 Ontario, Canada Anna Karlsson Karolinska University Stockholm, Sweden ...
- ... RARB RAX RBP4 RPGRIP1L SALL2 SCLT1 SEMA3E SIX6 SRD5A3 STRA6 TBC1D32 TBX22 TENM3 TMEM67 TMEM98 TMX3 VAX1 ...