Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A1
Variant:p.I172N
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SLC7A1

NM_003045.5:p.I172N

Associated Papers

Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients.

Soardi FC et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia.

Robins T et al.

Molecular Endocrinology (baltimore, Md.), 2006

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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."