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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJB2

Variant:p.N206N

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GJB2

NM_004004.6:p.N206N

hg38:chr13:20188964 A>G

Associated Papers

Novel human mitochondrial tRNA phe mutation in a patient with hearing impairment: a case study.

Dowlati MA et al.

Mitochondrial Dna, 2013

22979943 (PubMed )

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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."