Varaico: Literature-Extracted Genetic Variants

Gene:ITM2C
Variant:p.I172N
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ITM2C

NM_030926.6:p.I172N

Associated Papers

Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Falhammar H et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

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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."