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- Bfa02cd8bfe52db58014c7b80b5cb0058 NCIT_P378 "NCI" @default.
- Bfa02cd8bfe52db58014c7b80b5cb0058 type Axiom @default.
- Bfa02cd8bfe52db58014c7b80b5cb0058 annotatedProperty IAO_0000115 @default.
- Bfa02cd8bfe52db58014c7b80b5cb0058 annotatedSource NCIT_C134633 @default.
- Bfa02cd8bfe52db58014c7b80b5cb0058 annotatedTarget "Human RTEL1 wild-type allele is located in the vicinity of 20q13.33 and is approximately 38 kb in length. This allele, which encodes regulator of telomere elongation helicase 1 protein, is involved in telomere and chromosome maintenance. Mutation of the gene is associated with telomere-related pulmonary fibrosis and/or bone marrow failure 3 and dyskeratosis congenita types autosomal dominant 4 and autosomal recessive 5." @default.