Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B4eac5cf8a5b911ec5aac9600d2b3a79f> ?p ?o ?g. }
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- B4eac5cf8a5b911ec5aac9600d2b3a79f hasDbXref "PMID:21723623" @default.
- B4eac5cf8a5b911ec5aac9600d2b3a79f type Axiom @default.
- B4eac5cf8a5b911ec5aac9600d2b3a79f annotatedProperty IAO_0000115 @default.
- B4eac5cf8a5b911ec5aac9600d2b3a79f annotatedSource MONDO_0002561 @default.
- B4eac5cf8a5b911ec5aac9600d2b3a79f annotatedTarget "A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins." @default.