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Q40118329-94745DE7-C38E-4243-AAFD-F17560C03F7D
Q40118329-94745DE7-C38E-4243-AAFD-F17560C03F7D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40118329-94745DE7-C38E-4243-AAFD-F17560C03F7D
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
P2860
Q40118329-94745DE7-C38E-4243-AAFD-F17560C03F7D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40118329-94745DE7-C38E-4243-AAFD-F17560C03F7D
rank
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Statement
wasDerivedFrom
c6d361028521e58f0ddc9c7ca1d37cb29c6a9bc8
P2860
Analysis of protein-coding genetic variation in 60,706 humans