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- B0d477b12d7513c95f5e84d8ff31cb7f0 NCIT_P378 "NCI" @default.
- B0d477b12d7513c95f5e84d8ff31cb7f0 type Axiom @default.
- B0d477b12d7513c95f5e84d8ff31cb7f0 annotatedProperty IAO_0000115 @default.
- B0d477b12d7513c95f5e84d8ff31cb7f0 annotatedSource NCIT_C189754 @default.
- B0d477b12d7513c95f5e84d8ff31cb7f0 annotatedTarget "Human SFTPC wild-type allele is located the vicinity of 8p21.3 and is approximately 8 kb in length. This allele, which encodes pulmonary surfactant-associated protein C, is involved in lung function and homeostasis. Mutation of the gene is associated with pulmonary surfactant metabolism dysfunction type 2 (pulmonary alveolar proteinosis due to surfactant protein C deficiency)." @default.