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Q31080581-C7CB580A-543D-454A-B52B-77DA5F170A13
Q31080581-C7CB580A-543D-454A-B52B-77DA5F170A13
BestRank
Statement
http://www.wikidata.org/entity/statement/Q31080581-C7CB580A-543D-454A-B52B-77DA5F170A13
Compound heterozygosity of a frameshift mutation in the coding region and a single base substitution in the promoter of the ACTH receptor gene in a family with isolated glucocorticoid deficiency.
P2860
Q31080581-C7CB580A-543D-454A-B52B-77DA5F170A13
BestRank
Statement
http://www.wikidata.org/entity/statement/Q31080581-C7CB580A-543D-454A-B52B-77DA5F170A13
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
c21ec1a58af94ed74a34129373604115058a4089
P2860
Stable expression of normal and mutant human ACTH receptor: study of ACTH binding and coupling to adenylate cyclase