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neurodegeneration with brain iron accumulation
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PANK2
Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13
PLA2G6
Multiple splice variants of the human calcium-independent phospholipase A2 and their effect on enzyme activity
Characterization of the human patatin-like phospholipase family
Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions
FTL
Towards a proteome-scale map of the human protein-protein interaction network
A human protein-protein interaction network: a resource for annotating the proteome
The ferritin genes: structure, expression, and regulation
COASY
Complete reconstitution of the human coenzyme A biosynthetic pathway via comparative genomics
Cancer Gene Census
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Definition
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Pathways
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Porphyrin and chlorophyll metabolism
Homo sapiens (human)
one gene
Clinical Trials
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External
NBIAready: Online Collection of Natural History Patient-reported Outcome Measures