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Q34507229-11BF3450-FF52-4316-A9E5-CB45A4F3654B
Q34507229-11BF3450-FF52-4316-A9E5-CB45A4F3654B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34507229-11BF3450-FF52-4316-A9E5-CB45A4F3654B
The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.
P2860
Q34507229-11BF3450-FF52-4316-A9E5-CB45A4F3654B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34507229-11BF3450-FF52-4316-A9E5-CB45A4F3654B
rank
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Statement
wasDerivedFrom
c977a50e3a1f77e1b13a3c01d1fb17683d1a37e8
P2860
Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia