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HUPO-PSI / psi-mi-CV

Molecular Interactions Controll Vocabulary
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Feature: variant - description of a mutation #307

Closed noedelta closed 8 years ago

noedelta commented 12 years ago

It would be useful to have the option to add (" UniProt term=Natural variant") naturally occurring variants (SAPs - "NOVs"!) and disease associated, and/or naturally occurring disease causing variants/mutations, as an alternative to the all inclusive term "Mutation/mutation increasing/decreasing etc...". I have at least one paper that has several natural variants to curate. Sandra suggested:- Parent term:- (Natural) variant (mutation/substitution) Child - disease causing/associated variant - (? terms Somatic mutation/Germ line mutation? - as used by UniProt)

Reported by: orchard

noedelta commented 12 years ago

Original comment by: orchard