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Q41924751-6B228E84-B2C0-4E80-9957-87546987CBB1
Q41924751-6B228E84-B2C0-4E80-9957-87546987CBB1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41924751-6B228E84-B2C0-4E80-9957-87546987CBB1
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.
P2860
Q41924751-6B228E84-B2C0-4E80-9957-87546987CBB1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41924751-6B228E84-B2C0-4E80-9957-87546987CBB1
rank
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Statement
wasDerivedFrom
d86e7132664b9d961e85547a118e83fbcc14f9c1
P2860
An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)