ReviewFrontiers in endocrinology2021
Genes and Pseudogenes: Complexity of the RCCX Locus and Disease.
Review in Frontiers in endocrinology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 35 citations in OpenAlex.
- Short-Read NGS of a Long-RangeInternational journal of molecular sciences · 2026Article
- Diagnosing CAH-X syndrome by long-read sequencing and identifying a novel genotype.Orphanet journal of rare diseases · 2026Article
- Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-hydroxylase Deficiency in 457 Individuals.The Journal of clinical endocrinology and metabolism · 2026Article
- Rapid, accurate long- and short-read mapping to large pangenome graphs with vg Giraffe.Research square · 2025Article
- Rapid, accurate long- and short-read mapping to large pangenome graphs with vg Giraffe.bioRxiv : the preprint server for biology · 2025Article
- High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing.Scientific reports · 2025Article
- Haplotypic resolution of the challenging genomic regions of MHC and KIR using a combination of targeted sequencing and a novel assembly pipeline.Nucleic acids research · 2025Article
- Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications.Journal of the Endocrine Society · 2025Review
- High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.Human genomics · 2025Article
- Severe Clinical Manifestation of a Salt Wasting Form of Congenital Adrenal Hyperplasia Harboring a Complex Genotype.Case reports in endocrinology · 2025Article
- Exploring antigenic variation in autoimmune endocrinopathy.Frontiers in immunology · 2025Review
- Genetic diagnosis of the Ehlers-Danlos syndromes.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024Article
- Long-Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the Pedigree.Molecular genetics & genomic medicine · 2024Article
- Complex genetic variation in nearly complete human genomes.bioRxiv : the preprint server for biology · 2024Article
- Exploring gene content with pangene graphs.ArXiv · 2024Article
- Challenging Molecular Diagnosis of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency: Case Series and Novel Variants ofCurrent issues in molecular biology · 2024Article
- Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency.Journal of endocrinological investigation · 2024Article
- STK19 is a DNA/RNA-binding protein critical for DNA damage repair and cell proliferation.The Journal of cell biology · 2024Article
- Review
- Comparison of long-read sequencing and MLPA combined with long-PCR sequencing ofFrontiers in genetics · 2024Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Copy Number Variations (CNVs) account for a large proportion of human genome and are a primary contributor to human phenotypic variation, in addition to being the molecular basis of a wide spectrum of disease. Multiallelic CNVs represent a considerable fraction of large CNVs and are strictly related to segmental duplications according to their prevalent duplicate alleles. RCCX CNV is a complex, multiallelic and tandem CNV located in the major histocompatibility complex (MHC) class III region. RCCX structure is typically defined by the copy number of a DNA segment containing a series of genes - the serine/threonine kinase 19 (
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.