Varaico: Literature-Extracted Genetic Variants

Gene:CRH
Variant:p.P30L
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CRH

NM_000756.4:p.P30L

Associated Papers

Predicting Residual 21-Hydroxylase Enzymatic Activity in Pediatric and Adult Congenital Adrenal Hyperplasia Patients: Towards Individualized Therapy.

Bindellini D et al.

Cpt: Pharmacometrics & Systems Pharmacology, 2025

Non-classical congenital adrenal hyperplasia: current insights into clinical implications, diagnosis and treatment.

Loli P et al.

Endocrine, 2025

Growth and Treatment in Congenital Adrenal Hyperplasia: An Observational Study from Diagnosis to Final Height.

Gidlöf S et al.

Hormone Research in Paediatrics, 2024

Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: a retrospective multicenter cohort study.

Schröder MAM et al.

European Journal of Endocrinology, 2023

Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.

Claahsen-van der Grinten HL et al.

Endocrine Reviews, 2022

Management of the Female With Non-classical Congenital Adrenal Hyperplasia (NCCAH): A Patient-Oriented Approach.

Livadas S et al.

Frontiers in Endocrinology, 2019

An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency.

Hannah-Shmouni F et al.

Reviews in Endocrine & Metabolic Disorders, 2018

Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.

Carmina E et al.

Human Reproduction Update, 2017

Genetics of Congenital Adrenal Hyperplasia.

Hannah-Shmouni F et al.

Endocrinology and Metabolism Clinics of North America, 2017

The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene.

Livadas S et al.

Clinical Endocrinology, 2015

Mutation analysis of the CYP21A2 gene in the Iranian population.

Rabbani B et al.

Genetic Testing and Molecular Biomarkers, 2012

Molecular Diagnosis of Congenital Adrenal Hyperplasia in Iran: Focusing on CYP21A2 Gene.

Rabbani B et al.

Iranian Journal of Pediatrics, 2011

Refractory acne and 21-hydroxylase deficiency in a selected group of female patients.

Caputo V et al.

Dermatology (basel, Switzerland), 2010

Genetics of congenital adrenal hyperplasia.

Krone N et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2009

Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency.

Charmandari E et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

White PC et al.

Endocrine Reviews, 2000

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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."