All individuals with variants in gene GJB2

9 entries on 1 page. Showing entries 1 - 9.
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AscendingIndividual ID     

Reference     

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Geographic origin     

Ethnic origin     

Population     

Remarks     

Microattribution     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000242 Siti Aishah Zainal et al. (2012) - Malaysia Malay Kelantan - - NSHL - 13 1 Nuur Athirah Binti Mohd Daud
00000258 A Asma et al. (2011) - Malaysia - - - - NSHL - 2 1 Nuur Athirah Binti Mohd Daud
00000273 B H I Ruszymah et al. (2005) M Malaysia Malay - - - NSHL - 3 1 Nuur Athirah Binti Mohd Daud
00000274 B H I Ruszymah et al. (2005) F Malaysia Malay - - - NSHL - 1 1 Nuur Athirah Binti Mohd Daud
00000275 B H I Ruszymah et al. (2005) F Malaysia Chinese - - - NSHL - 2 1 Nuur Athirah Binti Mohd Daud
00000276 B H I Ruszymah et al. (2005) M Malaysia Chinese - - - NSHL - 2 1 Nuur Athirah Binti Mohd Daud
00000482 Z Siti Aishah et al. (2008) - Malaysia Malay - - - NSHL - 3 1 Nuur Athirah Binti Mohd Daud
00000573 Yock-Ping Chow et al.(2017) F Malaysia - - Sister #1 - PDS diffused multinodular goiter, bilateral profound sensorineural hearing loss>60 dB, cochlear hypoplasia 1 1 Nur Aisyah Athirah
00000574 Yock-Ping Chow et al.(2017) F Malaysia - - Sister #2 - PDS profound hearing loss at 10 months of age associated with delayed speech development, has large, diffused multinodular goiter, bilateral profound sensorineural hearing loss>60 dB 1 1 Nur Aisyah Athirah
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