Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.S139I
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GJB2

NM_004004.6:p.S139I

Associated Papers

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Mao L et al.

Biology, 2023

37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1

Molecular diagnosis of SLC26A4-related hereditary hearing loss in a group of patients from two provinces of Iran.

Koohiyan M et al.

Intractable & Rare Diseases Research, 2021

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.

Anwar S et al.

Journal of Human Genetics, 2009

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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."