disease 1,701 words KG: ent-dise-d47c41a4
Contents

Seckel Syndrome

Disease Info
LocationChromosome 8q21.3
FunctionPart of MRN complex
RoleMutations cause NBS (similar but distinct syndrome)
SignificanceShares phenotypic overlap with Seckel
DatabasesOMIMOrphanetClinicalTrialsPubMed

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