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Q35826632-B729B0C3-CCED-42EE-99E9-AF06A1977C42
Q35826632-B729B0C3-CCED-42EE-99E9-AF06A1977C42
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35826632-B729B0C3-CCED-42EE-99E9-AF06A1977C42
A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome.
P2860
Q35826632-B729B0C3-CCED-42EE-99E9-AF06A1977C42
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35826632-B729B0C3-CCED-42EE-99E9-AF06A1977C42
rank
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wasDerivedFrom
739a170e5e7e1aa13b424504a5af079eea7cae48
P2860
A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome