Publications:

Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency.

Jimd Reports

Ostergaard, Elsebet E; Duno, Morten M; Møller, Lisbeth Birk LB; Kalkanoglu-Sivri, H Serap HS; Dursun, Ali A; Aliefendioglu, Didem D; Leth, Helle H; Dahl, Marianne M; Christensen, Ernst E; Wibrand, Flemming F

Publication Date: 2013

Variant appearance in text: PC: 903+1G>A

PubMed Link: 23430542

Variant Present in the following documents:

• Main text

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