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Exploring the Impact of Negative Samples of Contrastive Learning: A Case Study of Sentence Embedding
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Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.
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Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.
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Abstract:
Bengkala is an Indonesian village located on the north shore of Bali that has existed for over 700 years. Currently, 2.2% of the 2185 people in this village have profound congenital deafness. In response to the high incidence of deafness, the people of Bengkala have developed a village specific sign language which is used by many of the hearing and deaf people. Deafness in Bengkala is congenital, sensorineural, non-syndromal, and caused by a fully penetrant autosomal recessive mutation at the DFNB3 locus. The frequency of the DFNB3 mutation is estimated to be 9.4% among hearing people who have a 17.2% chance of being heterozygous for DFNB3.
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Keyword:
Research Article
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URL: http://www.ncbi.nlm.nih.gov/pubmed/7616538 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1050426
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