Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.

Hum Mutat · 2024 · PMC11922042 · PMID 40225925

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did not reach statistical significanceno p-value reported

Although the results in our study did not reach statistical significance, they did show a similar trend in the same sections of the NPCRS.

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a positive trendno p-value reported

Furthermore, the coagulation parameters, a liver parameter, and the transferrin ratios showed a positive trend, and IGF-1 levels were significantly higher values in combination with p.Cys241Ser.

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