Varaico: Literature-Extracted Genetic Variants

Gene:EGR1
Variant:p.S516_A517insFs
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EGR1

NM_001964.3:p.S516_A517insFs

Associated Papers

Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling.

Li Q et al.

Journal of Translational Medicine, 2012

Two common and three novel PDS mutations in Thai patients with Pendred syndrome.

Snabboon T et al.

Journal of Endocrinological Investigation, 2007

[Genetic counseling and instruction for deaf couples directed by genetic testing].

Han B et al.

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

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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."