Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.C202insFs
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GJB2

NM_004004.6:p.C202insFs

Associated Papers

A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.

Jian M et al.

Clinical and Translational Medicine, 2022

35665479 (PubMed )
Supplement: CTM2-12-e843-s002.xlsx › supplementary_table_6

The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

Usami SI et al.

Human Genetics, 2022

34599366 (PubMed )
Supplement: 439_2021_2371_MOESM2_ESM.xlsx › SuppleTable2_20210811_final

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Zheng J et al.

Molecular Genetics & Genomic Medicine, 2019

31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
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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."