Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.L242P
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CYP21A2

NM_000500.9:p.L242P

Associated Papers

Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China.

Wang X et al.

International Journal of Neonatal Screening, 2025

Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns.

Concolino P et al.

Molecular Diagnosis & Therapy, 2021

Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India.

Gangodkar P et al.

Endocrine, 2021

Congenital Adrenal Hyperplasia - A Comprehensive Review of Genetic Studies on 21-Hydroxylase Deficiency from India.

Ravichandran L et al.

Indian Journal of Endocrinology and Metabolism, 0

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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."