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mechanism 3,113 words KG: ent-gene-694200ea
Contents

GBA Gene Mutations and Parkinson's Disease Risk

🔬 Protein Info
Gene Symbolent-gene-694200ea
Chromosome1q21
Missense mutationsN370S, L444P, V394L, D409H
Splice-site mutationsIVS2+1, IVS10-1
Recombinant allelesComplex mutations from gene conversion with GBAP1
Null mutationsFrameshift, nonsense mutations causing complete loss of function
KG Connections2 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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Knowledge Graph

Knowledge Graph (2 edges)

ent-gene-694200ea data_in benchmark_ot_ad_answer_key:GBA
benchmark_ot_ad_answer_key:GBA data_in ent-gene-694200ea

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