Varaico: Literature-Extracted Genetic Variants

Gene:COLQ
Variant:p.V318V
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COLQ

NM_005677.4:p.V318V

Associated Papers

Bilateral laparoscopic adrenalectomy for congenital adrenal hyperplasia with severe hypertension, resulting from two novel mutations in splice donor sites of CYP11B1.

Chabre O et al.

The Journal of Clinical Endocrinology and Metabolism, 2000

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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."