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- Bcc76ab1e8ddb49cdd79fea673031df2a NCIT_P378 "NCI" @default.
- Bcc76ab1e8ddb49cdd79fea673031df2a type Axiom @default.
- Bcc76ab1e8ddb49cdd79fea673031df2a annotatedProperty IAO_0000115 @default.
- Bcc76ab1e8ddb49cdd79fea673031df2a annotatedSource NCIT_C129871 @default.
- Bcc76ab1e8ddb49cdd79fea673031df2a annotatedTarget "An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles." @default.