G2Cdb::Human Disease report

Disease id
D00000211
Name
Spastic paraplegia
Nervous system disease
yes

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001881 L1CAM
L1 cell adhesion molecule
Y (9452098) Splice site mutation (SpS) Y

References

Literature (1)

Pubmed - human_disease

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EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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