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Q53133307-62A1C25F-B4DF-4508-941A-9E1763329DA7
Q53133307-62A1C25F-B4DF-4508-941A-9E1763329DA7
BestRank
Statement
http://www.wikidata.org/entity/statement/Q53133307-62A1C25F-B4DF-4508-941A-9E1763329DA7
Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy.
P2860
Q53133307-62A1C25F-B4DF-4508-941A-9E1763329DA7
BestRank
Statement
http://www.wikidata.org/entity/statement/Q53133307-62A1C25F-B4DF-4508-941A-9E1763329DA7
rank
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type
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Statement
wasDerivedFrom
edb5278b086265c09e67a9bf8a29c1e812052bbb
P2860
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.