Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.M34I
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GJB1

NM_000166.6:p.M34I

Associated Papers

Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-103C > T mutation causing CMTX1.

Grosz BR et al.

Neurogenetics, 2021

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.

Tomaselli PJ et al.

Neurology, 2017

Gap junction disorders of myelinating cells.

Kleopa KA et al.

Reviews in the Neurosciences, 2010

Diverse trafficking abnormalities of connexin32 mutants causing CMTX.

Yum SW et al.

Neurobiology of Disease, 2002

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