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Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report  

FRONTIERS IN GENETICS

Slaba, K; Noskova, H; Vesela, P; Tuckova, J; Jicinska, H; Honzik, T; Hansikova, H; Kleiblova, P; Stourac, P; Jabandziev, P; Slaby, O; Prochazkova, D, 2020: Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report. FRONTIERS IN GENETICS 11, doi: 10.3389/fgene.2020.561054

Research Groups:

• Molecular Oncology - Solid Cancer
• CF: Genomics Core Facility

CEITEC authors:

• Hana Pálová, Ph.D.
• Petra Pokorná
• Prof. Ondřej Slabý, Ph.D.