Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R516_Y517insFs
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CFTR

NM_000492.4:p.R516_Y517insFs

Associated Papers

[Diagnostic function of SLC26A4 hot spot mutations screening to enlarged vestibular aqueduct syndrome].

Li Q et al.

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2010

Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.

Reyes S et al.

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2009

[Real-time Taqman probe technique system for detecting the MtDNA 1555 A > G mutation.].

Yuan YY et al.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2009

[GJB6 gene mutation analysis in Chinese nonsyndromic deaf population].

Yuan Y et al.

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2007

[Patients suffered from enlarged vestibular aqueduct syndrome in Chifeng deaf and dumb school detected by Pendred's syndrome gene hot spot mutation screening].

Dai P et al.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."