Encara no tenim significats per a "incompletely penetrant".
1Many mutations are incompletely penetrant and attributing pathogenicity is challenging.
2One of the major difficulties is genetic heterogeneity, possibly due to multiple, incompletely penetrant PC-susceptibility genes.
3The gene for intestinal neurofibromatosis may be incompletely penetrant and its expression varies even in symptomatic patients.
4Conclusion: This analysis of 5 patients demonstrates that mutations in PSTPIP1 are incompletely penetrant and variably expressed in the PAPA syndrome.
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