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Q34614865-D196BC5D-8FBF-4440-B936-08C11A2BA7B3
Q34614865-D196BC5D-8FBF-4440-B936-08C11A2BA7B3
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Statement
http://www.wikidata.org/entity/statement/Q34614865-D196BC5D-8FBF-4440-B936-08C11A2BA7B3
A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.
P2860
Q34614865-D196BC5D-8FBF-4440-B936-08C11A2BA7B3
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34614865-D196BC5D-8FBF-4440-B936-08C11A2BA7B3
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wasDerivedFrom
2892961c742434efc247b3501d7eb4c39718ea46
P2860
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.