Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.T641K
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WFS1

NM_006005.3:p.T641K

Associated Papers

Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.

Charif M et al.

Frontiers in Neurology, 2021

33841295 (PubMed )
Supplement: Table_2.XLSX › Feuil1

Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.

Chaussenot A et al.

Clinical Genetics, 2015

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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."