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Q40118329-C6DB98BF-2A44-4406-AE0B-932ADA1B7472
Q40118329-C6DB98BF-2A44-4406-AE0B-932ADA1B7472
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40118329-C6DB98BF-2A44-4406-AE0B-932ADA1B7472
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
P2860
Q40118329-C6DB98BF-2A44-4406-AE0B-932ADA1B7472
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40118329-C6DB98BF-2A44-4406-AE0B-932ADA1B7472
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
c6d361028521e58f0ddc9c7ca1d37cb29c6a9bc8
P2860
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.