Publication | Closed Access
<i>HSP60</i> IS A RARE CAUSE OF HEREDITARY SPASTIC PARAPARESIS, BUT MAY ACT AS A GENETIC MODIFIER
21
Citations
5
References
2008
Year
Rare DiseasesMendelian DisorderBroad Clinical VariabilityGenetic DisorderGeneticsPathogenesisA Genetic ModifierBut May ActPathologyNovel Reep1Molecular GeneticsDisease Gene IdentificationGenomicsHereditary Spastic ParaplegiaMedicineVariant InterpretationClinical Genetics
A novel REEP1 splicing mutation with broad clinical variability in a family with hereditary spastic paraplegia,
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