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Q33735950-6B58021A-FDD8-4382-A517-5E32699F037B
Q33735950-6B58021A-FDD8-4382-A517-5E32699F037B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33735950-6B58021A-FDD8-4382-A517-5E32699F037B
Familial glucocorticoid receptor haploinsufficiency by non-sense mediated mRNA decay, adrenal hyperplasia and apparent mineralocorticoid excess.
P2860
Q33735950-6B58021A-FDD8-4382-A517-5E32699F037B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33735950-6B58021A-FDD8-4382-A517-5E32699F037B
rank
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wasDerivedFrom
f884e0a70a49f1b306efa036bb599ad8a1f7d688
P2860
Neonatal complete generalized glucocorticoid resistance and growth hormone deficiency caused by a novel homozygous mutation in Helix 12 of the ligand binding domain of the glucocorticoid receptor gene (NR3C1).