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Q56940210-07D4AB85-2A11-4A67-A6CF-F95A5329E4D9
Q56940210-07D4AB85-2A11-4A67-A6CF-F95A5329E4D9
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Statement
http://www.wikidata.org/entity/statement/Q56940210-07D4AB85-2A11-4A67-A6CF-F95A5329E4D9
Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency
P2860
Q56940210-07D4AB85-2A11-4A67-A6CF-F95A5329E4D9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q56940210-07D4AB85-2A11-4A67-A6CF-F95A5329E4D9
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wasDerivedFrom
46548ba3203b0722c7532724f5a50e3ce50884d6
P2860
The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction.