Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC3
Variant:p.P30L
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EXOSC3

NM_016042.4:p.P30L

Associated Papers

Mutation analysis of the CYP21A2 gene in the Iranian population.

Rabbani B et al.

Genetic Testing and Molecular Biomarkers, 2012

21-hydroxylase genotyping in Australasian patients with congenital adrenal hyperplasia.

Jeske YW et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009

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

Mutations in the gene encoding 21-hydroxylase detected by solid-phase minisequencing.

Ohlsson G et al.

Human Genetics, 1997

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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."