Varaico: Literature-Extracted Genetic Variants

Gene:GLI3
Variant:p.R180Q
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GLI3

NM_000168.6:p.R180Q

Associated Papers

Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly.

Wang RY et al.

Journal of Orthopaedic Surgery and Research, 2024

Monogenic causes of chronic kidney disease in adults.

Connaughton DM et al.

Kidney International, 2019

Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients.

Zwaveling-Soonawala N et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

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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."