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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease familial periodic paralysis
Comorbidity C1563715|andersen-tawil syndrome
Sentences 1
PubMedID- 24556932 Loss-of-function mutations of kcnj2 encoding k(ir)2.1 result in andersen-tawil syndrome with periodic paralysis, cardiac arrhythmia and dysmorphic features.

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