Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.I20S
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GJB1

NM_000166.6:p.I20S

Associated Papers

Novel gap junction protein beta-1 gene mutation associated with a stroke-like syndrome and central nervous system involvement in patients with X-linked Charcot-Marie-Tooth Type 1: A case report and literature review.

Hu G et al.

Clinical Neurology and Neurosurgery, 2019

Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.

Lu YY et al.

Chinese Medical Journal, 2017

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
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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."