Varaico: Literature-Extracted Genetic Variants

Gene:HTR1A
Variant:p.V281L
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HTR1A

NM_000524.4:p.V281L

Associated Papers

Mutation distributions among patients with congenital adrenal hyperplasia from five regions of Brazil: a systematic review.

Hosomi SS et al.

Archives of Endocrinology and Metabolism, 2023

Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.

de Carvalho DF et al.

European Journal of Endocrinology, 2016

[Genotypes and phenotypes in Uygur children with 21-hydroxylase deficiency in Xinjiang, China].

Li J et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2016

Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone.

Malikova J et al.

Clinical Endocrinology, 2012

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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."