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Q58699413-0BE8C621-4E1B-4297-BBC2-B40D2FACC34F
Q58699413-0BE8C621-4E1B-4297-BBC2-B40D2FACC34F
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http://www.wikidata.org/entity/statement/Q58699413-0BE8C621-4E1B-4297-BBC2-B40D2FACC34F
Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report
P2860
Q58699413-0BE8C621-4E1B-4297-BBC2-B40D2FACC34F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q58699413-0BE8C621-4E1B-4297-BBC2-B40D2FACC34F
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wasDerivedFrom
131320805668c3eb0cd5682547d829a124fb3208
P2860
Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.