article_metadata: Katerina Slaba Hana Noskova Petra Vesela Jana Tuckova Hana Jicinska Tomas Honzik Hana Hansikova Petra Kleiblova Petr Stourac Petr Jabandziev Ondrej Slaby Dagmar Prochazkova
article_metadata: 10.3389/fgene.2020.561054
article_metadata: Front Genet
article_metadata: 2020 Oct 7;11:561054.
article_metadata: pmm2-cdg novel splicing variant pericardial effusion phosphomannomutase 2 whole exome sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/33133147/
article_metadata: PMC7575812
article_metadata: 33133147
article_metadata: Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report
article_metadata: 2020