Varaico: Literature-Extracted Genetic Variants

Gene:CISD2
Variant:p.L91delFs
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CISD2

NM_001008388.5:p.L91delFs

Associated Papers

Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum.

Rosanio FM et al.

International Journal of Environmental Research and Public Health, 2022

Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome.

Ren Z et al.

Bmc Endocrine Disorders, 2021

Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome.

Zhang Y et al.

Orphanet Journal of Rare Diseases, 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."