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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking BSND and sensorineural hearing loss in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Birkenhager R, etal., Nat Genet. 2001 Nov;29(3):310-4.
  • 5 additional annotations were made from Birkenhager R, etal., Nat Genet. 2001 Nov;29(3):310-4.
  • 904 RGD objects have been annotated to sensorineural hearing loss  (DOID:10003)
  • 6 papers in RGD have been used to annotate BSND
  • Curation Notes: Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon


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