Varaico: Literature-Extracted Genetic Variants

Gene:TNPO3
Variant:p.R923fs
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TNPO3

NM_012470.4:p.R923fs

Associated Papers

LGMD D2 TNPO3-Related: From Clinical Spectrum to Pathogenetic Mechanism.

Costa R et al.

Frontiers in Neurology, 2022

[The TNPO3 mutation that causes LGMD1F induces protection against HIV-1 infection].

Allamand V

Medecine Sciences : M/s, 2019

A new family with transportinopathy: increased clinical heterogeneity.

Angelini C et al.

Therapeutic Advances in Neurological Disorders, 2019

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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."