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Published in 2018 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.344
Abstract: Deleterious mutations in PRF1 result in lethal, childhood disease, familial hemophagocytic lymphohistiocytosis type 2 (FHL 2). However, not all mutations in PRF1 are deleterious and result in FHL 2. Currently, these nondeleterious mutations are being…
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Keywords:
variation geographically;
medicine;
gene variation;
human perforin ... See more keywords