Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.S17_G21Fs
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GJB2

NM_004004.6:p.S17_G21Fs

Associated Papers

Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Gal M et al.

Bmc Medical Genomics, 2016

27175728 (PubMed )
Supplement: 12920_2016_184_MOESM1_ESM.xls › S1

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

Putcha GV et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007

Guidelines and recommendations for testing of Cx26 mutations and interpretation of results.

Mazzoli M et al.

International Journal of Pediatric Otorhinolaryngology, 2004

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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."