Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.I349delins
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WFS1

NM_006005.3:p.I349delins

Associated Papers

Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OPA1/OPA3/LHON.

Galvez-Ruiz A et al.

Neuro-ophthalmology (aeolus Press), 2018

Clinical variability in hereditary optic neuropathies: Two novel mutations in two patients with dominant optic atrophy and Wolfram syndrome.

Galvez-Ruiz A

Saudi Journal of Ophthalmology : Official Journal of the Saudi Ophthalmological Society, 0

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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."