Varaico: Literature-Extracted Genetic Variants

Gene:CIC
Variant:p.R201Q
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CIC

NM_015125.5:p.R201Q

Associated Papers

Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenesis: HYPOTYGEN Translational Cohort Study.

Stoupa A et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

CIC inactivating mutations identify aggressive subset of 1p19q codeleted gliomas.

Gleize V et al.

Annals of Neurology, 2015

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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."