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- NCIT_C186647 IAO_0000115 "Human MTMR1 wild-type allele is located in the vicinity of Xq28 and is approximately 72 kb in length. This allele, which encodes myotubularin-related protein 1, is involved in phosphatidylinositol 3-phosphate metabolism. A chromosomal deletion that results in a fusion comprised of exon 4 of the MAMLD1 fused to exon 3 of this gene is associated with X-linked hypospadias type 2." @default.
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- NCIT_C186647 NCIT_P106 "Gene or Genome" @default.
- NCIT_C186647 NCIT_P108 "MTMR1 wt Allele" @default.
- NCIT_C186647 NCIT_P208 "CL1778786" @default.
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- NCIT_C186647 hasExactSynonym "MTMR1 wt Allele" @default.
- NCIT_C186647 hasExactSynonym "Myotubularin Related Protein 1 wt Allele" @default.
- NCIT_C186647 type Class @default.
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- NCIT_C186647 label "MTMR1 wt Allele" @default.
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