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Q40118329-97F346B3-A302-44D8-9C4A-BBA2E48F05FF
Q40118329-97F346B3-A302-44D8-9C4A-BBA2E48F05FF
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http://www.wikidata.org/entity/statement/Q40118329-97F346B3-A302-44D8-9C4A-BBA2E48F05FF
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
P2860
Q40118329-97F346B3-A302-44D8-9C4A-BBA2E48F05FF
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40118329-97F346B3-A302-44D8-9C4A-BBA2E48F05FF
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wasDerivedFrom
c6d361028521e58f0ddc9c7ca1d37cb29c6a9bc8
P2860
A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Ab