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Q34614865-6CB172E9-D515-4413-B74A-61875081B48E
Q34614865-6CB172E9-D515-4413-B74A-61875081B48E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34614865-6CB172E9-D515-4413-B74A-61875081B48E
A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.
P2860
Q34614865-6CB172E9-D515-4413-B74A-61875081B48E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34614865-6CB172E9-D515-4413-B74A-61875081B48E
rank
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Statement
wasDerivedFrom
2892961c742434efc247b3501d7eb4c39718ea46
P2860
Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2