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Q39230891-0D5DFD70-C18C-414C-8612-9457515CAB57
Q39230891-0D5DFD70-C18C-414C-8612-9457515CAB57
BestRank
Statement
http://www.wikidata.org/entity/statement/Q39230891-0D5DFD70-C18C-414C-8612-9457515CAB57
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
P2860
Q39230891-0D5DFD70-C18C-414C-8612-9457515CAB57
BestRank
Statement
http://www.wikidata.org/entity/statement/Q39230891-0D5DFD70-C18C-414C-8612-9457515CAB57
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wasDerivedFrom
ba09f62417da2fe1199fe69d909cf94a5ed09911
P2860
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.