Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.R32G
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GJB1

NM_000166.6:p.R32G

Associated Papers

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.

Yanus GA et al.

International Journal of Molecular Sciences, 2024

39273284 (PubMed )
Supplement: ijms-25-09335-s001.zip › ijms-3137350-supplementary.pdf

An algorithm for genetic testing of Serbian patients with demyelinating Charcot-Marie-Tooth.

Keckarevic Markovic MP et al.

Genetic Testing and Molecular Biomarkers, 2013

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.

Miltenberger-Miltenyi G et al.

European Journal of Human Genetics : Ejhg, 2009

Mutational analysis of GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in Serbian Charcot-Marie-Tooth patients.

Keckarevic-Markovic M et al.

Journal of the Peripheral Nervous System : Jpns, 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."