Varaico: Literature-Extracted Genetic Variants

Gene:GLI2
Variant:p.Y176C
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GLI2

NM_001374353.1:p.Y176C

Associated Papers

A case report of Culler-Jones syndrome with deafness carrying a novel mutation in GLI2 gene.

Yuan X et al.

Bmc Pediatrics, 2025

De Novo GLI2 Missense Variant in a Child With Isolated Hypopituitarism and Craniofacial Anomalies: Expanding the Phenotypic Spectrum.

Goel H et al.

Molecular Genetics & Genomic Medicine, 2025

[Culler-Jones syndrome caused by a new mutated GLI2 gene: a case report].

Wang XW et al.

Zhonghua Nei Ke Za Zhi, 2023

Case report: A case of Culler-Jones syndrome caused by a novel mutation of GLI2 gene and literature review.

Zhang Y et al.

Frontiers in Endocrinology, 2023

Patient-specific molecular alterations are associated with metastatic clear cell renal cell cancer progressing under tyrosine kinase inhibitor therapy.

Dietz S et al.

Oncotarget, 2017

29088767 (PubMed )
Supplement: oncotarget-08-74049-s002.xlsx › Patient_2_-_Progress
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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."