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Q53058359-3AFD5EB8-9C80-4911-B78D-A892CA583DC7
Q53058359-3AFD5EB8-9C80-4911-B78D-A892CA583DC7
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http://www.wikidata.org/entity/statement/Q53058359-3AFD5EB8-9C80-4911-B78D-A892CA583DC7
Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings.
P2860
Q53058359-3AFD5EB8-9C80-4911-B78D-A892CA583DC7
BestRank
Statement
http://www.wikidata.org/entity/statement/Q53058359-3AFD5EB8-9C80-4911-B78D-A892CA583DC7
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wasDerivedFrom
1ead6291dd1b15422fb32f241d5208f3fada1204
P2860
Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene