One gene, one or many diseases? Simplifying dysferlinopathy.
Bushby
Kate
K
Straub
Volker
V
D000073939:Dysferlin; D005838:Genotype; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009124:Muscle Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000145:classification* / Q000235:genetics*; D010641:Phenotype
C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins