Varaico: Literature-Extracted Genetic Variants

Gene:INTS2
Variant:p.Q318*
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INTS2

NM_001351695.2:p.Q318*

Associated Papers

Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt.

Essawi M et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020

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

Jeske YW et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009

Prenatal treatment of congenital adrenal hyperplasia. The United States experience.

New MI

Endocrinology and Metabolism Clinics of North America, 2001

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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."