Varaico: Literature-Extracted Genetic Variants

Gene:TSHZ3
Variant:p.Q177*
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TSHZ3

NM_020856.4:p.Q177*

Associated Papers

Wolfram syndrome type 1: a case series.

Du D et al.

Orphanet Journal of Rare Diseases, 2023

A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome.

Feichtinger RG et al.

Genes, 2022

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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."