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)
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