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1
Q46064793-42E1DF14-544E-4012-BE81-8F760EFC434B
Q46064793-42E1DF14-544E-4012-BE81-8F760EFC434B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46064793-42E1DF14-544E-4012-BE81-8F760EFC434B
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
P2860
Q46064793-42E1DF14-544E-4012-BE81-8F760EFC434B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46064793-42E1DF14-544E-4012-BE81-8F760EFC434B
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
8cd069c6b2a3684acf84464b5282a06def5fac04
P2860
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy