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Q46726634-E4A5004A-ABD7-4C7C-892D-33C61313E385
Q46726634-E4A5004A-ABD7-4C7C-892D-33C61313E385
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http://www.wikidata.org/entity/statement/Q46726634-E4A5004A-ABD7-4C7C-892D-33C61313E385
The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.
P2860
Q46726634-E4A5004A-ABD7-4C7C-892D-33C61313E385
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46726634-E4A5004A-ABD7-4C7C-892D-33C61313E385
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wasDerivedFrom
8b8ae7a2a6613b4dbe44f587fd8af8065d919b95
P2860
Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea