Varaico: Literature-Extracted Genetic Variants

Gene:GLIS2
Variant:p.H188_Y192del0
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GLIS2

NM_032575.3:p.H188_Y192del0

Associated Papers

The nephronophthisis protein GLIS2/NPHP7 is required for the DNA damage response in kidney tubular epithelial cells.

Ebert LK et al.

American Journal of Physiology. Renal Physiology, 2025

Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure.

Al Alawi I et al.

Frontiers in Genetics, 2021

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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."