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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease infantile neuronal ceroid lipofuscinosis
Comorbidity C0027877|neuronal ceroid lipofuscinosis
Sentences 2
PubMedID- 23857568 A novel c.776_777insa mutation in cln1 leads to infantile neuronal ceroid lipofuscinosis.
PubMedID- 23772246 Novel cln1 mutation with atypical juvenile neuronal ceroid lipofuscinosis.

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