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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cystic fibrosis
Comorbidity C0026850|muscular dystrophy
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PubMedID- 22563532 Heritable disorders where premature stop codon mutations (taa, tag or tga) commonly occur include duchenne muscular dystrophy (dmd) (10–20% of patients) and cystic fibrosis (cf) (2–5% of patients) [2], furthermore, ptcs may occur in tumor suppressor genes.

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