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Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5086, doi. 10.1093/brain/awad314
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- Publication type:
- Article
A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16819-z
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- Publication type:
- Article