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Q44984942-D43D045D-231D-4F99-9947-F6B10485BCDA
Q44984942-D43D045D-231D-4F99-9947-F6B10485BCDA
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Statement
http://www.wikidata.org/entity/statement/Q44984942-D43D045D-231D-4F99-9947-F6B10485BCDA
A novel nonsense mutation of the mineralocorticoid receptor gene in the renal form of pseudohypoaldosteronism type 1.
P2860
Q44984942-D43D045D-231D-4F99-9947-F6B10485BCDA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q44984942-D43D045D-231D-4F99-9947-F6B10485BCDA
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type
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wasDerivedFrom
d0cfc1d6c1889a55515f637d24eb6ae3d1898b20
P2860
A novel gain-of-function mutation (F821L) in the transmembrane domain of calcium-sensing receptor is a cause of severe sporadic hypoparathyroidism.