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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking BCAP31 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 Cacciagli P, etal., Am J Hum Genet. 2013 Sep 5;93(3):579-86. doi: 10.1016/j.ajhg.2013.07.023.
  • 2 additional annotations were made from Cacciagli P, etal., Am J Hum Genet. 2013 Sep 5;93(3):579-86. doi: 10.1016/j.ajhg.2013.07.023.
  • 489 CRRD objects have been annotated to sensorineural hearing loss  (DOID:10003)
  • 7 papers in CRRD have been used to annotate BCAP31
  • Curation Notes: DNA:mutation, deletion:exon:p.Q33X (human)

  • This annotation was curated on 2018-04-28 09:00:36.0 by CRRD . For more information contact us

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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.