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- NCIT_C75862 IAO_0000115 "Human NPHP1 wild-type allele is located in the vicinity of 2q13 and is approximately 83 kb in length. This allele, which encodes nephrocystin-1 protein, plays a role in the progression of adhesion-dependent signaling pathways. Mutations in the gene are associated with familial juvenile nephronophthisis type 1, Senior-Loken syndrome type 1, and Joubert syndrome type 4." @default.
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- NCIT_C75862 NCIT_P106 "Gene or Genome" @default.
- NCIT_C75862 NCIT_P108 "NPHP1 wt Allele" @default.
- NCIT_C75862 NCIT_P207 "C2698417" @default.
- NCIT_C75862 NCIT_P321 "4867" @default.
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- NCIT_C75862 hasExactSynonym "FLJ97602" @default.
- NCIT_C75862 hasExactSynonym "JBTS4" @default.
- NCIT_C75862 hasExactSynonym "NPH1" @default.
- NCIT_C75862 hasExactSynonym "NPHP1 wt Allele" @default.
- NCIT_C75862 hasExactSynonym "Nephronophthisis 1 (Juvenile) wt Allele" @default.
- NCIT_C75862 hasExactSynonym "SLSN1" @default.
- NCIT_C75862 type Class @default.
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- NCIT_C75862 label "NPHP1 wt Allele" @default.
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