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Q40118329-1C3751E3-7A59-4299-B099-B0B9787FE7E6
Q40118329-1C3751E3-7A59-4299-B099-B0B9787FE7E6
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Statement
http://www.wikidata.org/entity/statement/Q40118329-1C3751E3-7A59-4299-B099-B0B9787FE7E6
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
P2860
Q40118329-1C3751E3-7A59-4299-B099-B0B9787FE7E6
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40118329-1C3751E3-7A59-4299-B099-B0B9787FE7E6
rank
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type
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wasDerivedFrom
c6d361028521e58f0ddc9c7ca1d37cb29c6a9bc8
P2860
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.