Qing Yin. Zheng, et.al., Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes., Human molecular genetics, 2012, 21

http://rdf.ncbi.nlm.nih.gov/pubmed/22381527

Qing Yin. Zheng, et.al., Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes., Human molecular genetics, 2012, 21

pubmed

表現型アノテーション

http://purl.org/net/cito/citesAsAuthority

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• increased or absent threshold for auditory brainstem response_Cdh23<v-2J>/Cdh23<+>,Myo7a<sh1-8J>/Myo7a<+>
  http://metadb.riken.jp/0011967B6CgMyo7ash18JCdh23v2JCdh23v2JCdh23Myo7ash18JMyo7aMyo7aMyo7ash18JCdh23v2JCdh23
• abnormal cochlear hair cell stereociliary bundle morphology_Myo7a<sh1-8J>/Myo7a<sh1-8J>
  http://metadb.riken.jp/0004521B6CgMyo7ash18JJMyo7ash18JMyo7ash18JMyo7ash18J
• increased or absent threshold for auditory brainstem response_Cdh23<v-2J>/Cdh23<+>
  http://metadb.riken.jp/0011967B6VCdh23v2JJCdh23v2JCdh23Cdh23Cdh23v2J
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  http://metadb.riken.jp/0001394B6CgMyo7ash18JJMyo7ash18JMyo7ash18JMyo7ash18J
• increased or absent threshold for auditory brainstem response_Myo7a<sh1-8J>/Myo7a<sh1-8J>
  http://metadb.riken.jp/0011967B6CgMyo7ash18JJMyo7ash18JMyo7ash18JMyo7ash18J
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• increased or absent threshold for auditory brainstem response_Myo7a<sh1-8J>/Myo7a<+>,Ush1g<js>/Ush1g<+>
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  http://metadb.riken.jp/0011967C57BL6JPcdh15av3JJPcdh15av3JPcdh15Pcdh15av3JPcdh15
• absent startle reflex_Myo7a<sh1-7J>/Myo7a<sh1-8J>
  http://metadb.riken.jp/0006359B6CgMyo7ash17JMyo7ash18JMyo7ash17JMyo7ash18JMyo7ash17JMyo7ash18J
• increased or absent threshold for auditory brainstem response_Myo7a<sh1-8J>/Myo7a<+>,Pcdh15<av-3J>/Pcdh15<+>
  http://metadb.riken.jp/0011967B6CgMyo7ash18JPcdh15av3JMyo7ash18JMyo7aPcdh15av3JPcdh15Pcdh15Myo7ash18JPcdh15av3JMyo7a
• circling_Myo7a<sh1-7J>/Myo7a<sh1-8J>
  http://metadb.riken.jp/0001394B6CgMyo7ash17JMyo7ash18JMyo7ash17JMyo7ash18JMyo7ash17JMyo7ash18J
• increased or absent threshold for auditory brainstem response_Pcdh15<av-3J>/Pcdh15<+>,Ush1g<js>/Ush1g<+>
  http://metadb.riken.jp/0011967B6CgPcdh15av3JUsh1gjsPcdh15av3JPcdh15Ush1gjsUsh1gPcdh15av3JUsh1gjsPcdh15Ush1g